medquad_test.csv

sample,question,answer
5491,What are the treatments for Chronic inflammatory demyelinating polyneuropathy ?,"How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility."
10159,What are the treatments for Florid cemento-osseous dysplasia ?,"How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the treatment of florid cemento-osseous dysplasia in one patient. We recommend that you speak with your dentist to learn more about your treatment options and for referrals to local specialists. Minhas G, Hodge T, Gill DS. Orthodontic treatment and cemento-osseous dysplasia: a case report. J Orthod. 2008 Jun;35(2):90-5. You can also use the following tools to help you find specialists in your area. The Academy of General Dentistry has a tool for finding member dentists in your area.  http://www.knowyourteeth.com/findadentist/ The American Association of Oral and Maxillofacial Surgeons offers the following tool for finding member oral and maxillofacial surgeons in your area. http://www.aaoms.org/findoms.php Sometimes with more rare diseases, it can be helpful to have an evaluation with a specialist at a major university hospital or academic medical center. Such facilities often have access to up-to-date testing and technology, a large group of health care providers and specialists to consult with, and research opportunities."
2173,Is multiple endocrine neoplasia inherited ?,"Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mutations in the MEN1 gene, and occur in people with no history of the disorder in their family.  Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the MEN1 gene must be altered to trigger tumor formation in multiple endocrine neoplasia type 1. A mutation in the second copy of the MEN1 gene occurs in a small number of cells during a person's lifetime. Almost everyone who is born with one MEN1 mutation acquires a second mutation in certain cells, which can then divide in an unregulated way to form tumors.  Multiple endocrine neoplasia type 2 and type 4 are also inherited in an autosomal dominant pattern. In these cases, one copy of the mutated gene is sufficient to cause the disorder. Affected individuals often inherit an altered RET or CDKN1B gene from one parent with the condition. Some cases, however, result from new mutations in the gene and occur in people without other affected family members."
5996,What are the symptoms of Lujan syndrome ?,"What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the voice 90% Cognitive impairment 90% Disproportionate tall stature 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Scoliosis 90% Aplasia/Hypoplasia of the corpus callosum 50% Arachnodactyly 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Macroorchidism 50% Narrow face 50% Pectus excavatum 50% Prominent nasal bridge 50% Short philtrum 50% Abnormality of calvarial morphology 7.5% Abnormality of the pinna 7.5% Abnormality of the teeth 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Hallucinations 7.5% Low-set, posteriorly rotated ears 7.5% Seizures 7.5% Abnormality of the genitourinary system - Abnormality of the rib cage - Abnormally folded helix - Agenesis of corpus callosum - Aggressive behavior - Ascending aortic aneurysm - Autism - Broad thumb - Deep philtrum - Dental crowding - Emotional lability - Flexion contracture - Frontal bossing - Generalized hypotonia - High palate - Hyperactivity - Hypoplasia of the maxilla - Impaired social interactions - Intellectual disability - Joint laxity - Long face - Long nose - Low frustration tolerance - Low-set ears - Narrow nasal bridge - Nasal speech - Obsessive-compulsive behavior - Open mouth - Prominent forehead - Psychosis - Ventricular septal defect - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
400,What is (are) ovarian cancer ?,"Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.  The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary.  Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts.  In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells.  In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer.  In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.  Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases.  Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 140,000 women annually, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high."
13529,What is (are) Infertility ?,"Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility.    Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found.    There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies.    NIH: National Institute of Child Health and Human Development"
4855,What is (are) glycogen storage disease type I ?,"Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.  Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). As they get older, children with GSDI have thin arms and legs and short stature. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas).  People with GSDI may experience delayed puberty. Beginning in young to mid-adulthood, affected individuals may have thinning of the bones (osteoporosis), a form of arthritis resulting from uric acid crystals in the joints (gout), kidney disease, and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Females with this condition may also have abnormal development of the ovaries (polycystic ovaries). In affected teens and adults, tumors called adenomas may form in the liver. Adenomas are usually noncancerous (benign), but occasionally these tumors can become cancerous (malignant).  Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a.  Many people with GSDIb have a shortage of white blood cells (neutropenia), which can make them prone to recurrent bacterial infections. Neutropenia is usually apparent by age 1. Many affected individuals also have inflammation of the intestinal walls (inflammatory bowel disease). People with GSDIb may have oral problems including cavities, inflammation of the gums (gingivitis), chronic gum (periodontal) disease, abnormal tooth development, and open sores (ulcers) in the mouth. The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa."
5989,What are the symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency ?,"What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased liver function - Dehydration - Metabolic acidosis - Myoglobinuria - Neonatal death - Rhabdomyolysis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
270,What is (are) Adams-Oliver syndrome ?,"Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.  Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.  Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.  Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.  In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain."
9260,What are the treatments for Steatocystoma multiplex ?,"How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery.  However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts.  In many cases, small incisions (cuts into the skin) allow the cyst and its contents to be removed through the opening.  Other treatment options include medications such as oral isotretinoin to temporarily shrink the cysts and reduce inflammation or oral antibiotics to reduce redness and swelling.  Other procedures may include draining cysts through a procedure called aspiration, liquid nitrogen cryotherapy, dermabrasion, and carbon dioxide laser therapy. In a recently published case study, the authors present a case in which an individual with steatocystomas on the abdomen and lower chest showed substantial clearance of cysts after two laser treatment sessions. Future studies with a larger patient population will be helpful to evaluate this noninvasive treatment option and determine ideal treatment settings, number of treatments, and interval between treatments. This may prove to be an option for individuals with numerous cysts, in whom removal and drainage is not a realistic choice and other treatments have failed to improve the condition."
15355,What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"CKD usually takes a long time to develop and does not go away. In CKD, the kidneys continue to workjust not as well as they should. Wastes may build up so gradually that the body becomes used to having those wastes in the blood. Salts containing phosphorus and potassium may rise to unsafe levels, causing heart and bone problems. Anemialow red blood cell countcan result from CKD because the kidneys stop making enough erythropoietin, a hormone that causes bone marrow to make red blood cells. After months or years, CKD may progress to permanent kidney failure, which requires a person to have a kidney transplant or regular blood filtering treatments called dialysis."
12257,How to diagnose Adult Non-Hodgkin Lymphoma ?,"Tests that examine the body and lymph system are used to help detect (find) and diagnose adult non-Hodgkin lymphoma. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. This test is used to diagnose lymphoplasmacytic lymphoma.    -   Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer.    -   Lymph node biopsy: The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. One of the following types of biopsies may be done:                -  Excisional biopsy : The removal of an entire lymph node.       -  Incisional biopsy : The removal of part of a lymph node.      -  Core biopsy : The removal of part of a lymph node using a wide needle.       -  Fine-needle aspiration (FNA) biopsy: The removal of tissue or fluid using a thin needle.      -  Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to take tissue samples to be checked under a microscope for signs of disease.      -  Laparotomy : A surgical procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. Tissue samples are taken and checked under a microscope for signs of disease.                 If cancer is found, the following tests may be done to study the cancer cells:          -   Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.    -   Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes.    -   FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. This type of test is used to look for certain genetic markers.    -   Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose specific types of leukemia and lymphoma by comparing the cancer cells to normal cells of the immune system.        Other tests and procedures may be done depending on the signs and symptoms seen and where the cancer forms in the body."
4332,What are the genetic changes related to Langer-Giedion syndrome ?,"Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone and facial abnormalities. The EXT1 gene and the TRPS1 gene are always missing or mutated in affected individuals, but other neighboring genes may also be involved. The loss of additional genes from this region of chromosome 8 likely contributes to the varied features of this condition.  Langer-Giedion syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes."
3819,What are the treatments for erythrokeratodermia variabilis et progressiva ?,These resources address the diagnosis or management of EKVP:  - Genetic Testing Registry: Erythrokeratodermia variabilis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
15721,What to do for Childhood Nephrotic Syndrome ?,"- Childhood nephrotic syndrome is not a disease in itself; rather, it is a group of symptoms that      - indicate kidney damageparticularly damage to the glomeruli, the tiny units within the kidney where blood is filtered    - result in the release of too much protein from the body into the urine    - The two types of childhood nephrotic syndrome are      - primarythe most common type of childhood nephrotic syndrome, which begins in the kidneys and affects only the kidneys    - secondarythe syndrome is caused by other diseases    - The signs and symptoms of childhood nephrotic syndrome may include      - edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face    - albuminuriawhen a childs urine has high levels of albumin    - hypoalbuminemiawhen a childs blood has low levels of albumin    - hyperlipidemiawhen a childs blood cholesterol and fat levels are higher than normal    - A health care provider may order urine tests to help determine if a child has kidney damage from childhood nephrotic syndrome.  - Health care providers will decide how to treat childhood nephrotic syndrome based on the type:      - primary childhood nephrotic syndrome: medications    - secondary childhood nephrotic syndrome: treat the underlying illness or disease    - congenital nephrotic syndrome: medications, surgery to remove one or both kidneys, or transplantation"
5106,How many people are affected by phosphoglycerate kinase deficiency ?,Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature.
7803,What are the symptoms of Spondylothoracic dysostosis ?,"What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a ""crab-like"" appearance to the rib cage. The shortened spine and rib cage anomalies can cause serious breathing problems and recurring lung infections. These complications result in a 32% death rate in early childhood. Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion. Symptom and symptom severity may vary from patient to patient, however symptoms tend to be the worse for children who carry two ""E230X"" mutations in the MESP2 gene. Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent."
9423,What is (are) 15q13.3 microduplication syndrome ?,"15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same family. While some people with this microduplication do not have symptoms, several features seem to be common, including delayed development, intellectual disability, communication difficulties, emotional and behavioral problems (including autistic spectrum disorders), insomnia, and seizures. 15q13.3 microduplication syndrome is caused by a tiny duplication (microduplication) on the long arm of chromosome 15 that spans at least 6 genes. The features of this syndrome are thought to be caused by the presence of three copies of the genes in this region, instead of the normal two. However, it is unclear which genes contribute to the specific features. In addition, it is likely that other genetic or environmental factors influence the symptoms seen in this condition. Some cases of 15q13.3 microduplication syndrome are inherited in an autosomal dominant manner with reduced penetrance. Other cases are new (de novo). Treatment typically focuses on treating the symptoms (such as medication for seizures)."
6761,What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Glaucoma - Hammertoe - Hyporeflexia - Juvenile onset - Kyphoscoliosis - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - Steppage gait - Talipes equinovarus - Ulnar claw - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
6693,"What are the symptoms of Syndromic microphthalmia, type 3 ?","What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Tracheoesophageal fistula 90% Abnormal form of the vertebral bodies 50% Aplasia/Hypoplasia of the corpus callosum 50% Cryptorchidism 50% External ear malformation 50% Visual impairment 50% Abnormality of the ribs 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Hypoplasia of penis 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Sclerocornea 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Anophthalmia - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Butterfly vertebrae - Coloboma - Esophageal atresia - Frontal bossing - Hemivertebrae - Hypogonadotrophic hypogonadism - Hypoplasia of the corpus callosum - Hypospadias - Hypothalamic hamartoma - Microcephaly - Micropenis - Microphthalmia - Missing ribs - Muscular hypotonia - Optic nerve hypoplasia - Postnatal growth retardation - Rib fusion - Sensorineural hearing impairment - Short stature - Spastic diplegia - Spastic tetraplegia - Specific learning disability - Supernumerary ribs - Vertebral fusion - Vertebral hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
296,How many people are affected by Tangier disease ?,Tangier disease is a rare disorder with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified.
4409,What are the treatments for Pearson marrow-pancreas syndrome ?,These resources address the diagnosis or management of Pearson marrow-pancreas syndrome:  - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes  - Genetic Testing Registry: Pearson syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
10206,Is Hypophosphatasia inherited ?,"How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP."
11848,What are the treatments for Anencephaly ?,There is no cure or standard treatment for anencephaly. Treatment is supportive.
7600,What is (are) Marshall-Smith syndrome ?,"Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. Early death is common due to respiratory complications. The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition."
14890,How many people are affected by Hearing Loss ?,"Approximately 17 percent, or 36 million, of American adults say that they have some degree of hearing loss. Hearing loss is a common condition in older adults. Roughly one-third of Americans 65 to 74 years of age and 47 percent of those 75 and older have hearing loss."
14921,Who is at risk for Heart Attack? ?,"Certain factors increase the risk of developing coronary heart disease and having a heart attack. These risk factors include some things you cannot change. You are at greater risk if you -  are a man over age 45 or a woman over age 55.  -  have a family history of early heart disease -- heart disease in a father or brother before age 55 or in a mother or sister before age 65.   - have a personal history of angina or previous heart attack.   -  have had a heart procedure, such as angioplasty or heart bypass. are a man over age 45 or a woman over age 55. have a family history of early heart disease -- heart disease in a father or brother before age 55 or in a mother or sister before age 65. have a personal history of angina or previous heart attack. have had a heart procedure, such as angioplasty or heart bypass. Importantly, there are many risk factors for heart attack that you CAN change, including -  smoking  - being obese or overweight  - being physically inactive   -  having high blood pressure, high blood cholesterol or diabetes. smoking being obese or overweight being physically inactive having high blood pressure, high blood cholesterol or diabetes."
12460,How to diagnose Childhood Acute Lymphoblastic Leukemia ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood ALL. The following tests and procedures may be used to diagnose childhood ALL and find out if leukemia cells have spread to other parts of the body such as the brain or testicles:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken.    -   Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following:               - The number of red blood cells and platelets.      - The number and type of white blood cells.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.      - The portion of the sample made up of red blood cells.             -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.    -   Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. The following tests are done on blood or the bone marrow tissue that is removed:               -  Cytogenetic analysis : A laboratory test in which the cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes of lymphocytes. For example, in Philadelphia chromosome positive ALL, part of one chromosome switches places with part of another chromosome. This is called the Philadelphia chromosome.       -  Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see if they are lymphocytes or myeloid cells. If the cells are malignant lymphocytes (cancer) they are checked to see if they are B lymphocytes or T lymphocytes.             -   Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. This procedure is done after leukemia is diagnosed to find out if leukemia cells have spread to the brain and spinal cord. Intrathecal chemotherapy is given after the sample of fluid is removed to treat any leukemia cells that may have spread to the brain and spinal cord.     -   Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. The chest x-ray is done to see if leukemia cells have formed a mass in the middle of the chest."
12097,What is (are) Oral Cavity and Oropharyngeal Cancer ?,"Key Points
                    - Oral cavity and oropharyngeal cancer are diseases in which malignant (cancer) cells form in the mouth and throat.    - The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender.    - Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer.
                
                
                    Oral cavity and oropharyngeal cancer are diseases in which malignant (cancer) cells form in the mouth and throat.
                    Oral cavity cancer forms in any of these tissues of the oral cavity:         - The front two thirds of the tongue.    - The gingiva (gums).    - The buccal mucosa (the lining of the inside of the cheeks).    - The floor (bottom) of the mouth under the tongue.    - The hard palate (the front of the roof of the mouth).    - The retromolar trigone (the small area behind the wisdom teeth).          Oropharyngeal cancer forms in any of these tissues of the oropharynx:         - The middle part of the pharynx (throat) behind the mouth.    - The back one third of the tongue.    - The soft palate (the back of the roof of the mouth).    - The side and back walls of the throat.    - The tonsils.          Most oral cavity and oropharyngeal cancers start in squamous cells, the thin, flat cells that line the lips, oral cavity, and oropharynx. Cancer that forms in squamous cells is called squamous cell carcinoma.   See the following PDQ summaries for more information about the screening, diagnosis, and treatment of oral cavity and oropharyngeal cancer:         -  Oral Cavity and Oropharyngeal Cancer Prevention     -  Lip and Oral Cavity Cancer Treatment     -  Oropharyngeal Cancer Treatment
                
                
                    The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender.
                    Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. The number slightly decreased among black men and women.   Oral cavity and oropharyngeal cancer is more common in men than in women. Although oral cavity and oropharyngeal cancer may occur in adults of any age, it occurs most often in those aged 55 to 64 years.   France, Brazil, and parts of Asia have much higher rates of oral cavity and oropharyngeal cancer than most other countries.    The number of new cases of oropharyngeal cancer caused by certain types of human papillomavirus (HPV) infection has increased. One kind of HPV, called HPV 16, is often passed from one person to another during sexual activity."
6414,What is (are) Rh deficiency syndrome ?,"The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene .  The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia."
1431,How many people are affected by Ellis-van Creveld syndrome ?,"In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia."
7178,How to diagnose Lemierre syndrome ?,"How is Lemierre syndrome diagnosed? After performing blood cultures and complete blood counts, contrast computed tomography (CT) of the neck provides the definitive diagnosis. Ultrasound can also confirm internal jugular vein thrombosis."
6099,What is (are) Chiari malformation type 2 ?,"Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations."
6884,What are the treatments for Guttate psoriasis ?,"How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription) Lotions that contain coal tar Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) People with very severe guttate psoriasis may take medicines to suppress the body's immune system. These medicines include corticosteroids, cyclosporine, and methotrexate. Sunlight may help some symptoms go away. Care should be taken to avoid sunburn. Some people may choose to have phototherapy. Phototherapy is a medical procedure in which the skin is carefully exposed to ultraviolet light. Phototherapy may be given alone or after taking a drug that makes the skin more sensitive to light. More detailed information related to the treatment of psoriasis can be accessed through Medscape Reference. The National Psoriasis Foundation can also provide you with information on treatment."
15504,What to do for Nutrition for Early Chronic Kidney Disease in Adults ?,"- Controlling blood glucose and blood pressure through healthy food choices is an important step toward slowing or stopping the progression of chronic kidney disease (CKD).  - The kidneys remove wastes and extra water from the blood and make urine.  - Millions of Americans are at risk for developing CKD because they have diabetes, high blood pressure, or both.  - People with either type 1 or type 2 diabetes must choose foods carefully to control their blood glucose. Following a meal plan to keep blood glucose at a healthy level may prevent CKD from developing.  - Controlling blood pressure through healthy food choices and regular physical activity can delay or prevent the development of CKD. People with CKD should try to keep their blood pressure below 140/90 mmHg.  - Medical nutrition therapy (MNT) is the use of counseling by a registered dietitian to help promote a medical or health goal.   - Dietitians who specialize in helping people with CKD are called renal dietitians.   - Learning how to read and understand lab reports lets a person see how different foods can affect the kidneys. Patients can ask their doctor for copies of their lab reports and ask to have them explained, noting any results out of the normal range."
14194,What are the treatments for Gum (Periodontal) Disease ?,"Surgery might be necessary if inflammation and deep pockets remain following treatment with deep cleaning and medications. A periodontist may perform flap surgery to remove tartar deposits in deep pockets or to reduce the periodontal pocket and make it easier for the patient, dentist, and hygienist to keep the area clean. This common surgery involves lifting back the gums and removing the tartar. The gums are then sutured back in place so that the tissue fits snugly around the tooth again."
16241,What are the treatments for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?,"No one treatment for IC/PBS has been found that works for everyone. Your doctor or nurse will work with you to find a treatment plan that meets your special needs. The plan may include diet and lifestyle changes, bladder retraining, activity and exercise, physical therapy, and various types of medicines. You should expect some treatment failures along the way, but, with time, you and your doctor or nurse should find a treatment that gives you some relief and helps you cope with your disease.
                
Diet and Lifestyle Changes
                
Some people with IC/PBS find that certain foods or drinks bring on their symptoms. Others find no link between symptoms and what they eat.
                
Learning what foods cause symptoms for you may require some trial and error. Keep a food diary and note the times you have bladder pain. The diary might reveal that your flare-ups always happen, for example, after you eat tomatoes or oranges.
                
Some doctors recommend taking an antacid medicine with meals. The medicine reduces the amount of acid that gets into the urine.
                
If you make changes to your diet, remember to eat a variety of healthy foods.
                
Bladder Retraining
                
Bladder retraining is a way to help your bladder hold more urine. People with bladder pain often get in the habit of using the bathroom as soon as they feel pain or urgency. They then feel the need to go before the bladder is really full. The body may get used to frequent voiding. Bladder retraining helps your bladder hold more urine before signaling the urge to urinate.
                
Keep a bladder diary to track how you are doing. Start by noting the times when you void. Note how much time goes by between voids. For example, you may find that you return to the bathroom every 40 minutes.
                
Try to stretch out the time between voids. If you usually void every 40 minutes, try to wait at least 50 minutes before you go to the bathroom.
                
If your bladder becomes painful, you may use the bathroom. But you may find that your first urge to use the bathroom goes away if you ignore it. Find ways to relax or distract yourself when the first urge strikes.
                
After a few days, you may be able to stretch the time out to 60 or 70 minutes, and you may find that the urge to urinate does not return as soon.
                
Activity
                
If you have IC/PBS, you may feel the last thing you want to do is exercise. But many people feel that easy activities like walking or gentle stretching exercises help relieve symptoms.
                
Physical Therapy
                
Your doctor or nurse may suggest pelvic exercises. The pelvic muscles hold the bladder in place and help control urination. The first step is to find the right muscle to squeeze. A doctor, nurse, or physical therapist can help you. One way to find the muscles is to imagine that you are trying to stop passing gas. Squeeze the muscles you would use. If you sense a ""pulling"" feeling, you have found the right muscles for pelvic exercises.
                
You may need exercises to strengthen those muscles so that it's easier to hold in urine. Or you may need to learn to relax your pelvic muscles if tense muscles are part of your bladder pain.
                
Some physical therapists specialize in helping people with pelvic pain. Ask your doctor or nurse to help you find a professional trained in pelvic floor physical therapy.
                
Reducing Stress
                
Stress doesn't cause IC/PBS. But stress can trigger painful flare-ups in someone who has IC/PBS. Learning to reduce stress in your life by making time for relaxation every day may help control some symptoms of IC/PBS.
                
Oral Medicines
                
Pain pills like aspirin, ibuprofen, or acetominophen can help control mild bladder pain. Advil and Motrin are examples of ibuprofen. Tylenol is an example of acetominophen. Talk with your doctor if you feel you need a stronger pain medicine.
                
Your doctor may recommend a medication, pentosan polysulfate sodium, sold as Elmiron, which is approved for treating the pain of IC/PBS. You may need to take this medicine for up to 6 months before you notice improvement. Elmiron does not work for everyone, but some people with IC/PBS have found relief taking it. You need a doctor's order for Elmiron. If you don't notice improvement of your symptoms in 6 months, this medicine is not likely to work.
                
Researchers are also looking at other kinds of medicines. Medicines that treat heartburn might help bladder symptoms by reducing the amount of acid made in the body. Muscle relaxants can keep the bladder from squeezing at the wrong time. Keeping the bladder muscle relaxed helps ease the symptoms of IC/PBS.
                
Bladder Stretching
                
The doctor may stretch the bladder by filling it with liquid. You will be given an anesthetic to prevent pain and help relax your bladder muscles. Some patients have said their symptoms were helped after this treatment.
                
Bladder Medicines
                
Many patients who have IC/PBS find relief after a treatment in which their bladders are filled with a liquid medicine. The doctor guides a tube into your bladder and slowly fills the bladder with a liquid that eases irritation of the bladder wall. The liquid may be a compound called DMSO or a solution that contains heparin and a pain medicine called lidocaine.
                
You will keep the liquid in your bladder for about 15 minutes and then release it. You can have this treatment once every week or every other week for 1 or 2 months. You may not feel any better until the third or fourth treatment.
                
Nerve Stimulation
                
If you have tried diet changes, exercise, and medicines and nothing seems to help, you may wish to think about nerve stimulation. This treatment sends mild electrical pulses to the nerves that control the bladder.
                
At first, you may try a system that sends the pulses through electrodes placed on your skin. If this therapy works for you, you may consider having a device put in your body. The device delivers small pulses of electricity to the nerves around the bladder.
                
For some patients, nerve stimulation relieves bladder pain as well as urinary frequency and urgency. For others, the treatment relieves frequency and urgency but not pain. For still other patients, it does not work.
                
Scientists are not sure why nerve stimulation works. Some believe that the electrical pulses block the pain signals carried in the nerves. If your brain doesn't receive the nerve signal, you don't feel the pain. Others believe that the electricity releases endorphins, which are hormones that block pain naturally.
                
Surgery
                
As a last resort, your doctor might suggest surgery to remove part or all of the bladder. Surgery does not cure the pain of IC/PBS in all cases, but if you have tried every other option and your pain is still unbearable, surgery might be considered.
                
Talk with your doctor and family about the possible benefits and side effects."
5519,"Is Usher syndrome, type 1C inherited ?","How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected."
12356,what research (or clinical trials) is being done for Childhood Central Nervous System Germ Cell Tumors ?,"Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood central nervous system germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
            					
                    New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.
                
                
                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
                
                
                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.    Clinical trials are taking place in many parts of the country. See the Current Clinical Trials section that follows for links to current treatment clinical trials. These have been retrieved from the NCI's listing of clinical trials."
7956,What is (are) Congenital sucrase-isomaltase deficiency ?,"Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene."
15478,What to do for Perineal Injury in Males ?,"- Perineal injury is an injury to the perineum, the part of the body between the anus and the genitals, or sex organs. In males, the perineum is the area between the anus and the scrotum, the external pouch of skin that holds the testicles.  - Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as      - bladder control problems    - sexual problems    - Common causes of acute perineal injury in males include      - perineal surgery    - straddle injuries    - sexual abuse    - impalement    - Chronic perineal injury most often results from a job- or sport-related practicesuch as bike, motorcycle, or horseback ridingor a long-term condition such as chronic constipation.  - Traumatic or piercing injuries may require surgery to repair damaged pelvic floor muscles, blood vessels, and nerves. Treatment for these acute injuries may also include antibiotics to prevent infection.  - In people with a chronic perineal injury, a health care provider will treat the complications of the condition, such as erectile dysfunction (ED) and urinary incontinence.  - Preventing perineal injury requires being aware of and taking steps to minimize the dangers of activities such as construction work or bike riding.  - The National Institute for Occupational Safety and Health, part of the Centers for Disease Control and Prevention, recommends noseless seats for people who ride bikes as part of their job."
16395,How to prevent High Blood Pressure and Kidney Disease ?,"The best way to slow or prevent kidney disease from high blood pressure is to take steps to lower blood pressure. These steps include a combination of medication and lifestyle changes, such as
                
- healthy eating  - physical activity  - maintaining a healthy weight  - quitting smoking  - managing stress
                
No matter what the cause of the kidney disease, high blood pressure can increase damage to the kidneys. People with kidney disease should keep their blood pressure below 140/90.4
                
Medication
                
Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have been shown effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a health care provider may prescribe a diuretica medication that helps the kidneys remove fluid from the blood. A person may also need beta blockers, calcium channel blockers, and other blood pressure medications."
9785,What are the treatments for Myotonic dystrophy ?,"What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes, braces, walkers and scooters can help as muscle weakness progresses. There are also medications that can lessen the myotonia. Pain management can be achieved through the use of mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (prednisone), and tricyclic antidepressants. Other symptoms of myotonic dystrophy can also be treated. Heart problems should be followed by a cardiologist, but may be managed through insertion of a pacemaker and regular monitoring of cardiac function. Cataracts can be surgically corrected."
14758,What are the treatments for Osteoporosis ?,"A comprehensive osteoporosis treatment program includes a focus on proper nutrition, exercise, and safety issues to prevent falls that may result in fractures. In addition, your doctor may prescribe a medication to slow or stop bone loss, increase bone density, and reduce fracture risk. Nutrition.  The foods we eat contain a variety of vitamins, minerals, and other important nutrients that help keep our bodies healthy. All of these nutrients are needed in balanced proportion. In particular, calcium and vitamin D are needed for strong bones and for your heart, muscles, and nerves to function properly.   Exercise. Exercise is an important component of an osteoporosis prevention and treatment program. Exercise not only improves your bone health, but it increases muscle strength, coordination, and balance, and leads to better overall health. Although exercise is good for someone with osteoporosis, it should not put any sudden or excessive strain on your bones. As extra insurance against fractures, your doctor can recommend specific exercises to strengthen and support your back. Therapeutic medications.  Several medications are available for the prevention and/or treatment of osteoporosis, including: bisphosphonates; estrogen agonists/antagonists (also called selective estrogen receptor modulators or SERMS); calcitonin; parathyroid hormone; estrogen therapy; hormone therapy; and a recently approved RANK ligand (RANKL) inhibitor. (Watch the video to learn how exercise helped a 70-year-old woman with osteoporosis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)"
13518,What is (are) Anxiety ?,"Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include       - Panic disorder     - Obsessive-compulsive disorder     - Post-traumatic stress disorder     - Phobias     - Generalized anxiety disorder        Treatment can involve medicines, therapy or both.    NIH: National Institute of Mental Health"
15347,What is (are) Porphyria ?,"Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
                
- Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.  - Cutaneous porphyrias affect the skin.
                
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
                
Experts also classify porphyrias as erythropoietic or hepatic:
                
- In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.  - In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
                
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
                
Table 1. Types of porphyria
                
Type of Porphyria    Deficient Enzyme    Main Location of Porphyrin Buildup                  delta-aminolevulinate-dehydratase deficiency porphyria    delta-aminolevulinic acid dehydratase    liver        acute intermittent porphyria    porphobilinogen deaminase    liver        hereditary coproporphyria    coproporphyrinogen oxidase    liver        variegate porphyria    protoporphyrinogen oxidase    liver                congenital erythropoietic porphyria    uroporphyrinogen III cosynthase    bone marrow        porphyria cutanea tarda    uroporphyrinogen decarboxylase (~75% deficiency)    liver        hepatoerythropoietic porphyria    uroporphyrinogen decarboxylase (~90% deficiency)    bone marrow        erythropoietic protoporphyria*    ferrochelatase (~75% deficiency)    bone marrow
                
*Protoporphyria XLPP is a variant of erythropoietic protoporphyria."
828,Is Farber lipogranulomatosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition."
10561,What are the symptoms of Leber congenital amaurosis 1 ?,"What are the signs and symptoms of Leber congenital amaurosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blindness - Cataract - Decreased light- and dark-adapted electroretinogram amplitude - Eye poking - Fundus atrophy - Growth delay - Hepatomegaly - Hyperthreoninemia - Hyperthreoninuria - Intellectual disability - Keratoconus - Nystagmus - Photophobia - Pigmentary retinopathy - Reduced visual acuity - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
4813,Is malignant migrating partial seizures of infancy inherited ?,MMPSI is not inherited from a parent and does not run in families. This condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation).
8532,What causes Amniotic band syndrome ?,What causes amniotic bands? Amniotic bands are caused by damage to a part of the placenta called the amnion. Damage to the amnion may produce fiber-like bands that can trap parts of the developing baby.
7128,What is (are) Microhydranencephaly ?,"Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person."
4731,How many people are affected by Jervell and Lange-Nielsen syndrome ?,"Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people."
11060,What are the treatments for Neuroleptic Malignant Syndrome ?,"Generally, intensive care is needed. The neuroleptic or antipsychotic drug is discontinued, and the fever is treated aggressively. A muscle relaxant may be prescribed. Dopaminergic drugs, such as a dopamine agonist, have been reported to be useful."
6843,What is (are) Intellectual disability-developmental delay-contractures syndrome ?,"Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms. There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive."
10524,What are the symptoms of Charcot-Marie-Tooth disease type 2N ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Peripheral axonal neuropathy - Pes cavus - Skeletal muscle atrophy - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
2274,What are the treatments for incontinentia pigmenti ?,These resources address the diagnosis or management of incontinentia pigmenti:  - Gene Review: Gene Review: Incontinentia Pigmenti  - Genetic Testing Registry: Incontinentia pigmenti syndrome  - MedlinePlus Encyclopedia: Incontinentia Pigmenti Syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
6107,What are the treatments for Dihydropyrimidine dehydrogenase deficiency ?,"How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life."
6987,What is (are) Kuskokwim disease ?,"Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner."
4474,What are the treatments for McCune-Albright syndrome ?,These resources address the diagnosis or management of McCune-Albright syndrome:  - Gene Review: Gene Review: Fibrous Dysplasia/McCune-Albright Syndrome  - Genetic Testing Registry: McCune-Albright syndrome  - MedlinePlus Encyclopedia: McCune-Albright syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
13848,What is (are) Interstitial Lung Diseases ?,"Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis.    Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. Specific types include       - Black lung disease among coal miners, from inhaling coal dust    - Farmer's lung, from inhaling farm dust    - Asbestosis, from inhaling asbestos fibers    - Siderosis, from inhaling iron from mines or welding fumes    - Silicosis, from inhaling silica dust       Other causes include autoimmune diseases or occupational exposures to molds, gases, or fumes. Some types of interstitial lung disease have no known cause.    Treatment depends on the type of exposure and the stage of the disease. It may involve medicines, oxygen therapy, or a lung transplant in severe cases."
614,What are the treatments for Stormorken syndrome ?,These resources address the diagnosis or management of Stormorken syndrome:  - Genetic Testing Registry: Stormorken syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
12078,What are the symptoms of Intraocular (Uveal) Melanoma ?,Signs of intraocular melanoma include blurred vision or a dark spot on the iris. Intraocular melanoma may not cause early signs or symptoms. It is sometimes found during a regular eye exam when the doctor dilates the pupil and looks into the eye. Signs and symptoms may be caused by intraocular melanoma or by other conditions. Check with your doctor if you have any of the following:         - Blurred vision or other change in vision.    - Floaters (spots that drift in your field of vision) or flashes of light.    - A dark spot on the iris.    - A change in the size or shape of the pupil.    - A change in the position of the eyeball in the eye socket.
770,What is (are) familial pityriasis rubra pilaris ?,"Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term ""pityriasis"" refers to scaling; ""rubra"" means redness; and ""pilaris"" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.  Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life."
8903,What are the symptoms of Sarcoidosis ?,"What are the signs and symptoms of Sarcoidosis? Many people who have sarcoidosis don't have symptoms. Others may feel like they are coming down with the flu or a respiratory infection. While almost any body part or system can be affected, the lungs are most commonly involved. If granulomas form in the lungs, symptoms may include shortness of breath (dyspnea), a cough that won't go away, and chest pain. Some people feel very tired, uneasy, or depressed. Night sweats and weight loss are also common.      Sarcoidosis can also cause the following:   Skin rashes, ulcers or discoloration   Joint stiffness or pain   Enlarged lymph nodes   Enlarged liver or spleen   Vision problems, eye dryness or irritation   Headaches, seizures, or weakness on one side of the face   Aches and pains in the muscles and bones   Abnormal heart beats   Kidney stones The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcoidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 7.5% Splenomegaly 7.5% Optic neuropathy 5% Abnormality of the mouth - Anorexia - Arthritis - Blurred vision - Bone cyst - Cough - Dyspnea - Elevated erythrocyte sedimentation rate - Enlarged lacrimal glands - Exaggerated cellular immune processes - Fever - Generalized lymphadenopathy - Glaucoma - Hypercalciuria - Increased antibody level in blood - Inflammation of the large intestine - Interstitial pulmonary disease - Iridocyclitis - Pancytopenia - Photophobia - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
16119,What to do for Autoimmune Hepatitis ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing autoimmune hepatitis."
8006,What are the treatments for Lipodermatosclerosis ?,"How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. Some affected people may require medications to prevent blood clotting; reduce pain and inflammation; and/or increase blood flow. Depending on the severity of the condition and the response to initial treatments, vein surgery may be recommended."
12716,What are the treatments for Childhood Interstitial Lung Disease ?,"Childhood interstitial lung disease (chILD) is rare, and little research has been done on how to treat it. At this time, chILD has no cure. However, some children who have certain diseases, such as neuroendocrine cell hyperplasia of infancy, may slowly improve over time.
                
Current treatment approaches include supportive therapy, medicines, and, in the most serious cases, lung transplants.
                
Supportive Therapy
                
Supportive therapy refers to treatments that help relieve symptoms or improve quality of life. Supportive approaches used to relieve common chILD symptoms include:
                
Oxygen therapy. If your child's blood oxygen level is low, he or she may need oxygen therapy. This treatment can improve breathing, support growth, and reduce strain on the heart.
                
Bronchodilators. These medications relax the muscles around your childs airways, which helps open the airways and makes breathing easier.
                
Breathing devices. Children who have severe disease may need ventilators or other devices to help them breathe easier.
                
Extra nutrition. This treatment can help improve your child's growth and help him or her gain weight. Close monitoring of growth is especially important.
                
Techniques and devices to help relieve lung congestion. These may include chest physical therapy (CPT) or wearing a vest that helps move mucus (a sticky substance) to the upper airways so it can be coughed up. CPT may involve pounding the chest and back over and over with your hands or a device to loosen mucus in the lungs so that your child can cough it up.
                
Supervised pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.
                
Medicines
                
Corticosteroids are a common treatment for many children who have chILD. These medicines help reduce lung inflammation.
                
Other medicines can help treat specific types or causes of chILD. For example, antimicrobial medicines can treat a lung infection. Acid-blocking medicines can prevent acid reflux, which can lead to aspiration.
                
Lung Transplant
                
A lung transplant may be an option for children who have severe chILD if other treatments haven't worked.
                
Currently, lung transplants are the only effective treatment for some types of chILD that have a high risk of death, such as alveolar capillary dysplasia and certain surfactant dysfunction mutations.
                
Early diagnosis of these diseases gives children the chance to receive lung transplants. So far, chILD doesn't appear to come back in patients' transplanted lungs.
                
For more information about this treatment, go to the Health Topics Lung Transplant article."
8896,"What are the symptoms of Hypertrichosis lanuginosa, acquired ?","What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the eyebrow 90% Congenital, generalized hypertrichosis 90% Fine hair 90% Hypopigmentation of hair 90% Glossitis 50% Acanthosis nigricans 7.5% Ichthyosis 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Ovarian neoplasm 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
11169,What is the outlook for Frontotemporal Dementia ?,"The outcome for people with FTD is poor. The disease progresses steadily and often rapidly, ranging from less than 2 years in some individuals to more than 10 years in others. Eventually some individuals with FTD will need 24-hour care and monitoring at home or in an institutionalized care setting."
11267,What is (are) Stiff-Person Syndrome ?,"Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men.  It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists dont yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinsons disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain."
3590,What is (are) autosomal dominant nocturnal frontal lobe epilepsy ?,"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.  The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks.  In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers.  The seizures associated with ADNFLE can begin anytime from infancy to mid-adulthood, but most begin in childhood. The episodes tend to become milder and less frequent with age. In most affected people, the seizures can be effectively controlled with medication.  Most people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals."
14511,What causes Urinary Incontinence ?,"Why Does Urine Leak? The body stores urine in the bladder, which is a hollow organ, much like a balloon. During urination, muscles in the bladder tighten to move urine into a tube called the urethra. At the same time, the muscles around the urethra relax and let the urine pass out of the body. When the muscles in and around the bladder dont work the way they should, urine can leak. Short Periods of Leaking Sometimes urinary incontinence happens for a little while. Short periods of leaking urine can happen because of - urinary tract infections   - constipation  - some medicines.  urinary tract infections constipation some medicines. Longer Periods of Leaking  When leaking urine lasts longer, it may be due to - weak bladder muscles  - weak pelvic floor muscles  - overactive bladder muscles  - damage to nerves that control the bladder from diseases such as multiple sclerosis or Parkinsons disease  - blockage from an enlarged prostate in men  - diseases or conditions, such as arthritis, that may make it difficult to get to the bathroom in time  - pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal place into the vagina. When pelvic organs are out of place, the bladder and urethra are not able to work normally, which may cause urine to leak. weak bladder muscles weak pelvic floor muscles overactive bladder muscles damage to nerves that control the bladder from diseases such as multiple sclerosis or Parkinsons disease blockage from an enlarged prostate in men diseases or conditions, such as arthritis, that may make it difficult to get to the bathroom in time pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal place into the vagina. When pelvic organs are out of place, the bladder and urethra are not able to work normally, which may cause urine to leak. (Watch the video to learn how aging affects the bladder. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)"
13977,What is (are) Malnutrition ?,"Food provides the energy and nutrients you need to be healthy. If you don't get enough nutrients -- including proteins, carbohydrates, fats, vitamins, and minerals - you may suffer from malnutrition.    Causes of malnutrition include:       - Lack of specific nutrients in your diet. Even the lack of one vitamin can lead to malnutrition.    - An unbalanced diet    - Certain medical problems, such as malabsorption syndromes and cancers       Symptoms may include fatigue, dizziness, and weight loss. Or, you may have no symptoms. To diagnose the cause of the problem, your doctor may do blood tests and a nutritional assessment. Treatment may include replacing the missing nutrients and treating the underlying cause."
13077,What causes Stroke ?,"Ischemic Stroke and Transient Ischemic Attack
                
An ischemic stroke or transient ischemic attack (TIA) occurs if an artery that supplies oxygen-rich blood to the brain becomes blocked. Many medical conditions can increase the risk of ischemic stroke or TIA.
                
For example, atherosclerosis (ath-er-o-skler-O-sis) is a disease in which a fatty substance called plaque builds up on the inner walls of the arteries. Plaque hardens and narrows the arteries, which limits the flow of blood to tissues and organs (such as the heart and brain).
                
Plaque in an artery can crack or rupture (break open). Blood platelets (PLATE-lets), which are disc-shaped cell fragments, stick to the site of the plaque injury and clump together to form blood clots. These clots can partly or fully block an artery.
                
Plaque can build up in any artery in the body, including arteries in the heart, brain, and neck. The two main arteries on each side of the neck are called the carotid (ka-ROT-id) arteries. These arteries supply oxygen-rich blood to the brain, face, scalp, and neck.
                
When plaque builds up in the carotid arteries, the condition is called carotid artery disease. Carotid artery disease causes many of the ischemic strokes and TIAs that occur in the United States.
                
An embolic stroke (a type of ischemic stroke) or TIA also can occur if a blood clot or piece of plaque breaks away from the wall of an artery. The clot or plaque can travel through the bloodstream and get stuck in one of the brains arteries. This stops blood flow through the artery and damages brain cells.
                
Heart conditions and blood disorders also can cause blood clots that can lead to a stroke or TIA. For example, atrial fibrillation (A-tre-al fi-bri-LA-shun), or AF, is a common cause of embolic stroke.
                
In AF, the upper chambers of the heart contract in a very fast and irregular way. As a result, some blood pools in the heart. The pooling increases the risk of blood clots forming in the heart chambers.
                
An ischemic stroke or TIA also can occur because of lesions caused by atherosclerosis. These lesions may form in the small arteries of the brain, and they can block blood flow to the brain.
                
Hemorrhagic Stroke
                
Sudden bleeding in the brain can cause a hemorrhagic stroke. The bleeding causes swelling of the brain and increased pressure in the skull. The swelling and pressure damage brain cells and tissues.
                
Examples of conditions that can cause a hemorrhagic stroke include high blood pressure, aneurysms, and arteriovenous (ar-TEER-e-o-VE-nus) malformations (AVMs).
                
""Blood pressure"" is the force of blood pushing against the walls of the arteries as the heart pumps blood. If blood pressure rises and stays high over time, it can damage the body in many ways.
                
Aneurysms are balloon-like bulges in an artery that can stretch and burst. AVMs are tangles of faulty arteries and veins that can rupture within the brain. High blood pressure can increase the risk of hemorrhagic stroke in people who have aneurysms or AVMs."
2972,What are the genetic changes related to Andersen-Tawil syndrome ?,"Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome.  The KCNJ2 gene provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of muscles used for movement (skeletal muscles) and cardiac muscle. Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane. Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome.  Researchers have not determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the developmental abnormalities often found in Andersen-Tawil syndrome."
2457,What are the genetic changes related to Salih myopathy ?,"Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function.  Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.  The TTN gene mutations responsible for Salih myopathy lead to the production of an abnormally short version of titin. The defective protein disrupts the function of sarcomeres, which prevents skeletal and cardiac muscle from contracting normally. These muscle abnormalities underlie the features of Salih myopathy, including skeletal muscle weakness and dilated cardiomyopathy."
13149,Who is at risk for Arrhythmia? ?,"Arrhythmias are very common in older adults. Atrial fibrillation (a common type of arrhythmia that can cause problems) affects millions of people, and the number is rising.
                
Most serious arrhythmias affect people older than 60. This is because older adults are more likely to have heart disease and other health problems that can lead to arrhythmias.
                
Older adults also tend to be more sensitive to the side effects of medicines, some of which can cause arrhythmias. Some medicines used to treat arrhythmias can even cause arrhythmias as a side effect.
                
Some types of arrhythmia happen more often in children and young adults. Paroxysmal supraventricular tachycardia (PSVT), including Wolff-Parkinson-White syndrome, is more common in young people. PSVT is a fast heart rate that begins and ends suddenly.
                
Major Risk Factors
                
Arrhythmias are more common in people who have diseases or conditions that weaken the heart, such as:
                
Heart attack
                
Heart failure or cardiomyopathy, which weakens the heart and changes the way electrical signals move through the heart
                
Heart tissue that's too thick or stiff or that hasn't formed normally
                
Leaking or narrowed heart valves, which make the heart work too hard and can lead to heart failure
                
Congenital heart defects (defects present at birth) that affect the heart's structure or function
                
Other conditions also can raise the risk for arrhythmias, such as:
                
High blood pressure
                
Infections that damage the heart muscle or the sac around the heart
                
Diabetes, which increases the risk of high blood pressure and coronary heart disease
                
Sleep apnea, which can stress the heart because the heart doesn't get enough oxygen
                
An overactive or underactive thyroid gland (too much or too little thyroid hormone in the body)
                
Several other risk factors also can raise your risk for arrhythmias. Examples include heart surgery, certain drugs (such as cocaine or amphetamines), or an imbalance of chemicals or other substances (such as potassium) in the bloodstream."
10007,What are the symptoms of Megalocornea-intellectual disability syndrome ?,"What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Cognitive impairment 90% Frontal bossing 90% Megalocornea 90% Muscular hypotonia 90% Neurological speech impairment 90% Abnormality of the anterior chamber 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the iris 50% Epicanthus 50% Genu varum 50% Hypertelorism 50% Joint hypermobility 50% Kyphosis 50% Myopia 50% Open mouth 50% Scoliosis 50% Seizures 50% Short stature 50% Stereotypic behavior 50% Talipes 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of lipid metabolism 7.5% Abnormality of the pinna 7.5% Astigmatism 7.5% EEG abnormality 7.5% Hypothyroidism 7.5% Incoordination 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Reduced bone mineral density 7.5% Sensorineural hearing impairment 7.5% Short philtrum 7.5% Underdeveloped supraorbital ridges 7.5% Hypercholesterolemia 5% Osteopenia 5% Arachnodactyly - Ataxia - Autosomal recessive inheritance - Cupped ear - Delayed CNS myelination - Depressed nasal bridge - Dysphagia - Genu recurvatum - Genu valgum - High palate - Hypoplasia of the iris - Intellectual disability - Iridodonesis - Large fleshy ears - Long philtrum - Low anterior hairline - Pes planus - Poor coordination - Primary hypothyroidism - Round face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
11056,What are the treatments for Acute Disseminated Encephalomyelitis ?,"Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy are possible secondary treatment options that are reported to help in some severe cases. Additional treatment is symptomatic and supportive."
11403,What is the outlook for Deep Brain Stimulation for Parkinson's Disease ?,"Although most individuals still need to take medication after undergoing DBS, many people with Parkinsons disease experience considerable reduction of their motor symptoms and are able to reduce their medications. The amount of reduction varies but can be considerably reduced in most individuals, and can lead to a significant improvement in side effects such as dyskinesias (involuntary movements caused by long-term use of levodopa). In some cases, the stimulation itself can suppress dyskinesias without a reduction in medication. DBS does not improve cognitive symptoms in PD and indeed may worsen them, so it is not generally used if there are signs of dementia. DBS changes the brain firing pattern but does not slow the progression of the neurodegeneration."
6045,What are the symptoms of Blue rubber bleb nevus syndrome ?,"What are the signs and symptoms of Blue rubber bleb nevus syndrome? Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person.  In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon.  When pressure is released, they refill with blood and regain their original shape.  They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age.  Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia. Most bleeding from the gastrointestinal tract is slow; however, sudden quick bleeding (hemorrhage) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infarction, and even death. Blue rubber bleb nevus syndrome can affect other body organs as well.  Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder.  Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion. The Human Phenotype Ontology provides the following list of signs and symptoms for Blue rubber bleb nevus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Arteriovenous malformation 90% Bone pain 90% Cavernous hemangioma 90% Skin rash 90% Visceral angiomatosis 90% Gastrointestinal hemorrhage 50% Intestinal malrotation 50% Gastrointestinal infarctions 7.5% Microcytic anemia 7.5% Abnormality of the liver - Abnormality of the mouth - Abnormality of the respiratory system - Autosomal dominant inheritance - Cerebellar medulloblastoma - Chronic disseminated intravascular coagulation - Hemangioma - Hypermelanotic macule - Intestinal bleeding - Intussusception - Iron deficiency anemia - Pathologic fracture - Rectal prolapse - Thrombocytopenia - Volvulus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
6780,Is Polycythemia vera inherited ?,"Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the risk to develop PCV runs in families and sometimes appears to have an autosomal dominant pattern of inheritance. This means that only one altered copy of a gene in each cell is enough to give a person an increased risk for PCV. In other words, while an increased risk to develop PCV may be inherited, the condition itself is not inherited."
9259,What causes Steatocystoma multiplex ?,"What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is due to a gene mutation that was not inherited, but occurred for the first time in the affected individual. A sporadic condition may also be non-genetic and occur by chance, in which case it is not likely to recur in a family.  In many sporadic cases of steatocystoma multiplex, mutations in the KRT17 gene have not been identified. Cases of steatocystoma multiplex have also been reported in association with pachyonychia congenita, acrokeratosis verruciformis, hypertrophic lichen planus, hypohidrosis, hidradenitis suppurativa, and natal teeth."
4072,What are the genetic changes related to PMM2-congenital disorder of glycosylation ?,"PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can perform a wider variety of functions. Mutations in the PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity. Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. As a result, incorrect oligosaccharides are produced and attached to proteins. The wide variety of signs and symptoms in PMM2-CDG are likely due to the production of abnormally glycosylated proteins in many organs and tissues."
2619,What are the treatments for neurofibromatosis type 2 ?,"These resources address the diagnosis or management of neurofibromatosis type 2:  - Boston Children's Hospital  - Gene Review: Gene Review: Neurofibromatosis 2  - Genetic Testing Registry: Neurofibromatosis, type 2  - MedlinePlus Encyclopedia: Acoustic Neuroma  - MedlinePlus Encyclopedia: Neurofibromatosis 2  - Neurofibromatosis Clinic, Massachusetts General Hospital   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care"
10617,What causes Pigmented purpuric eruption ?,"What causes pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component."
491,How many people are affected by glucose phosphate isomerase deficiency ?,GPI deficiency is a rare cause of hemolytic anemia; its prevalence is unknown. About 50 cases have been described in the medical literature.
15530,What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"The HHS has identified 29 cases of CJD among the nearly 7,700 people in the United States who received NHPP pituitary hGH. None of the 29 people who got CJD began treatment with pituitary hGH after 1977, the year that the NHPP began producing pituitary hGH in a laboratory (headed by Dr. Albert Parlow) using a new purification step. Today, the growth hormone used to treat patients is made biosynthetically and not from human pituitary glands. Biosynthetic growth hormone (bGH), also known as recombinant human growth hormone (rhGH), poses no threat of infection with CJD.
                
Based on NHPP records, the HHS estimated 7,700 people were treated with pituitary hGH from the NHPP. Of these, the HHS got the names and addresses of 6,272 from their doctors and treatment centers so that their health could be monitored. Another 1,400 people are believed to have been treated with pituitary hGH; however, the HHS does not have their names and addresses. The HHS hoped to learn about CJD and other health problems in the unmonitored group of 1,400 and notified many doctors about the problem of CJD, asking them to report CJD among people treated with pituitary hGH. The HHS has learned that five of the 29 people with confirmed CJD were among the 1,400 people the HHS was not able to identify and study.
                
Some U.S. laboratories that made pituitary hGH for the NHPP also made hGH for use in other countries. The HHS learned that six people in New Zealand and two people in Brazil who received U.S.-made pituitary hGH may also have gotten CJD. A total of 37 people who were treated with pituitary hGH made in the United States may have gotten CJD.
                
Before bGH was available, several pharmaceutical companies made pituitary hGH. Some children treated in the U.S. received hormone produced by these companies when NHPP hGH was not available to them. Some of the 29 people with confirmed CJD received hGH from both the NHPP and a pharmaceutical company. Recently, the HHS has learned of an individual treated in the U.S. who developed CJD and received only commercial pituitary hGH. That person was not eligible for NHPP hGH and received pituitary hGH made by two pharmaceutical companies."
9789,What is (are) Carpenter syndrome ?,Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable.
13360,What is (are) Latex Allergy ?,"Latex is a milky fluid that comes from the tropical rubber tree. Hundreds of everyday products contain latex. Repeated exposure to a protein in natural latex can make you more likely to develop a latex allergy. If your immune system detects the protein, a reaction can start in minutes. You could get a rash or asthma. In rare cases you could have a severe reaction called anaphylaxis.    Your doctor may use a physical exam and skin and blood tests to diagnose it. There are medicines to treat a reaction, but it is best to try to avoid latex. Common latex products include       - Gloves    - Condoms    - Balloons    - Rubber bands    - Shoe soles    - Pacifiers       You can find latex-free versions of these products."
10516,What is (are) Autosomal dominant partial epilepsy with auditory features ?,"Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, vertigo, or other symptoms affecting the senses. Signs and symptoms of the condition generally begin in adolescence or early adulthood. ADPEAF is caused by changes (mutations) in the LGI1 or RELN gene and is inherited in an autosomal dominant manner. The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs)."
7624,What are the symptoms of SCOT deficiency ?,"What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. The Human Phenotype Ontology provides the following list of signs and symptoms for SCOT deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Episodic ketoacidosis - Ketonuria - Tachypnea - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
323,Is Kniest dysplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder."
11024,What are the treatments for Klippel Feil Syndrome ?,"Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful."
1073,Is limb-girdle muscular dystrophy inherited ?,"Limb-girdle muscular dystrophy can have different inheritance patterns.  Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Several rare forms of limb-girdle muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder."
8529,What are the treatments for Pontocerebellar hypoplasia type 1 ?,How might pontocerebellar hypoplasia type 1 be treated? There is no standard therapy for pontocerebellar hypoplasia type 1. Treatment is symptomatic and supportive.
5415,What is (are) Jackson-Weiss syndrome ?,"Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.  Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.  Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.  People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span."
8977,How to diagnose Barrett esophagus ?,"How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as: No dysplasia - a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells Low-grade dysplasia - the cells show small signs of precancerous changes High-grade dysplasia - the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource."
4783,Is North American Indian childhood cirrhosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition."
12012,Who is at risk for Childhood Extracranial Germ Cell Tumors? ?,Having certain inherited disorders can increase the risk of an extracranial germ cell tumor. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk.    Possible risk factors for extracranial germ cell tumors include the following:         - Having certain genetic syndromes:               -  Klinefelter syndrome may increase the risk of germ cell tumors in the mediastinum.      - Swyer syndrome may increase the risk of germ cell tumors in the testicles or ovaries.      - Turner syndrome may increase the risk of germ cell tumors in the ovaries.             - Having an undescended testicle may increase the risk of developing a testicular germ cell tumor.
5764,What are the treatments for Fibrodysplasia ossificans progressiva ?,"How might fibrodysplasia ossificans progressiva be treated? There is currently no definitive treatment.  However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva.  Other medications, such as muscle relaxants, mast cell inhibitors, and aminobisphosphonates, if appropriate, should be closely monitored by a physician.  Surgery to remove heterotopic and extra-skeletal bone is risky and can potentially cause painful new bone growth."
11744,What are the treatments for Dysautonomia ?,"There is usually no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, water bolus (rapid infusion of water given intravenously), a high-salt diet, and drugs such as fludrocortisone and midodrine."
10247,What is (are) Hemorrhagic shock and encephalopathy syndrome ?,"Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, coagulopathy, encephalopathy, and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months, although it can also occur in older children. Individuals with HSES have extremely high body temperatures and multiple organ failures. This condition often causes long term neurological problems or death. The cause of the HSES is unknown.hs"
4321,How many people are affected by juvenile Batten disease ?,"Juvenile Batten disease is the most common type of NCL, but its exact prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected."
3853,Is megalencephaly-capillary malformation syndrome inherited ?,"MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism."
5739,What is (are) Leber hereditary optic neuropathy with dystonia ?,"Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood."
2412,What are the genetic changes related to Walker-Warburg syndrome ?,"Walker-Warburg syndrome can be caused by mutations in one of several genes, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE. The proteins produced from these genes modify another protein called alpha ()-dystroglycan; this modification, called glycosylation, is required for -dystroglycan to function. The -dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, the anchoring function of -dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.  Mutations in these genes prevent glycosylation of -dystroglycan, which disrupts its normal function. Without functional -dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness of the skeletal muscles.  Defective -dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. Less is known about the effects of the gene mutations in other parts of the body, including the eyes.  Mutations in the POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE genes are found in only about half of individuals with Walker-Warburg syndrome. Other genes, some of which have not been identified, are likely involved in the development of this condition.  Because Walker-Warburg syndrome involves a malfunction of -dystroglycan, this condition is classified as a dystroglycanopathy."
7771,What is (are) Eosinophilic fasciitis ?,"Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related."
572,What are the genetic changes related to primary macronodular adrenal hyperplasia ?,"In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutations are believed to impair the protein's tumor-suppressor function, which allows the overgrowth of certain cells. It is unclear why this overgrowth is limited to the formation of adrenal gland nodules in people with PMAH.  PMAH can also be caused by mutations in the GNAS gene. This gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). The G protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of certain endocrine glands, including the adrenal glands. The GNAS gene mutations that cause PMAH are believed to result in an overactive G protein. Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP). An excess of cAMP may trigger abnormal cell growth and lead to the adrenal nodules characteristic of PMAH.  Mutations in other genes, some of which are unknown, can also cause PMAH."
9491,What is (are) Malignant eccrine spiradenoma ?,"Malignant eccrine spiradenoma is a type of tumor that develops from a sweat gland in the skin.  It starts as a rapidly-growing bump on the head or abdomen, and may cause tenderness, redness, or an open wound.  The exact cause of malignant eccrine spiradenoma is unknown, though it is thought that sun exposure or problems with the immune system (immunosuppression) may contribute to the development of this tumor.  Because malignant eccrine spiradenoma is quite rare, there are no established treatment guidelines; however, in practice, surgery is often performed to remove the tumor and additional treatments may follow, depending on the severity and extent of the cancer."
2745,What is (are) hepatic lipase deficiency ?,"Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large.  Normally, high levels of HDL (known as ""good cholesterol"") and low levels of LDL (known as ""bad cholesterol"") are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency."
2663,Is Saethre-Chotzen syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.  Some people with a TWIST1 mutation do not have any of the obvious features of Saethre-Chotzen syndrome. These people are still at risk of passing on the gene mutation and may have a child with craniosynostosis and the other typical signs and symptoms of the condition."
2931,How many people are affected by corticosteroid-binding globulin deficiency ?,"The prevalence of corticosteroid-binding globulin deficiency is unknown, but it is thought to be a rare disorder. However, because some people with the disorder have mild or no symptoms, it is likely that corticosteroid-binding globulin deficiency is underdiagnosed."
7612,What causes Relapsing polychondritis ?,"What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. ""HLA"" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP."
7809,What is (are) Hypertryptophanemia ?,"Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person."
6360,What is (are) Hydranencephaly ?,"Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt."
15271,What are the complications of Medullary Sponge Kidney ?,"Complications of medullary sponge kidney include
                
- hematuria, or blood in the urine  - kidney stones  - urinary tract infections (UTIs)
                
Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure."
9920,"How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?","How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM."
16222,What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?,"In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes.
                
Type 1 Diabetes
                
Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily.
                
Gestational Diabetes
                
Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs.
                
As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes.
                
Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up."
10953,What is the outlook for Transmissible Spongiform Encephalopathies ?,There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco.
8828,What is (are) Tracheobronchopathia osteoplastica ?,"Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases."
7576,What is (are) Prinzmetal's variant angina ?,"Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold, emotional stress, alcohol withdrawal, or vasoconstricting medications. The symptoms of this condition usually respond to treatment. Individuals with Prinzmetals' variant angina may have a higher risk for heart attack or arrhythmia."
12771,What are the treatments for Hypotension ?,"Treatment depends on the type of hypotension you have and the severity of your signs and symptoms. The goal of treatment is to bring blood pressure back to normal to relieve signs and symptoms. Another goal is to manage any underlying condition causing the hypotension.
                
Your response to treatment depends on your age, overall health, and strength. It also depends on how easily you can stop, start, or change medicines.
                
In a healthy person, low blood pressure without signs or symptoms usually isn't a problem and needs no treatment.
                
If you have signs or symptoms of hypotension, you should sit or lie down right away. Put your feet above the level of your heart. If your signs or symptoms don't go away quickly, you should seek medical care.
                
Orthostatic Hypotension
                
Many treatments are available for orthostatic hypotension. If you have this condition, your doctor may advise making lifestyle changes, such as:
                
Drinking plenty of fluids, such as water or sports drinks that contain nutrients like sodium and potassium.
                
Drinking little or no alcohol.
                
Standing up slowly.
                
Not crossing your legs while sitting.
                
Slowly increasing the amount of time you sit up if you've been immobile for a long time because of a medical condition. The term ""immobile"" refers to not being able to move around very much.
                
Eating small, low-carbohydrate meals if you have postprandial hypotension (a form of orthostatic hypotension).
                
Talk with your doctor about using compression stockings. These stockings apply pressure to your lower legs. The pressure helps move blood throughout your body.
                
If medicine is causing your low blood pressure, your doctor may change the medicine or adjust the dose you take.
                
Several medicines are used to treat orthostatic hypotension. These medicines, which raise blood pressure, include fludrocortisone and midodrine.
                
Neurally Mediated Hypotension
                
If you have neurally mediated hypotension (NMH), you may need to make lifestyle changes. These may include:
                
Avoiding situations that trigger symptoms, such as standing for long periods. Unpleasant, upsetting, or scary situations also can trigger symptoms.
                
Drinking plenty of fluids, such as water or sports drinks that contain nutrients like sodium and potassium.
                
Increasing your salt intake (as your doctor advises).
                
Learning to recognize symptoms that occur before fainting and taking action to raise your blood pressure. For example, sitting down and putting your head between your knees or lying down can help raise blood pressure.
                
If medicine is causing your hypotension, your doctor may change the medicine or adjust the dose you take. He or she also may prescribe medicine to treat NMH.
                
Children who have NHM often outgrow it.
                
Severe Hypotension Linked to Shock
                
Shock is a life-threatening emergency. People who have shock need prompt treatment from medical personnel. If a person has signs or symptoms of shock, call 911 right away.
                
The goals of treating shock are to:
                
Restore blood flow to the organs as quickly as possible to prevent organ damage
                
Find and reverse the cause of shock
                
Blood or special fluids are put into the bloodstream to restore blood flow to the organs. Medicines can help raise blood pressure or make the heartbeat stronger. Depending on the cause of the shock, other treatmentssuch as antibiotics or surgerymay be needed."
2934,What are the treatments for corticosteroid-binding globulin deficiency ?,These resources address the diagnosis or management of corticosteroid-binding globulin deficiency:  - American Heart Association: Understanding Blood Pressure Readings  - Genetic Testing Registry: Corticosteroid-binding globulin deficiency   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
6331,What is (are) Dowling-Degos disease ?,"Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). Symptoms typically develop in late childhood or in adolescence and progress over time. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically don't cause health problems. Dowling-Degos disease is caused by mutations in the KRT5 gene. This condition is inherited in an autosomal dominant pattern."
1611,How many people are affected by idiopathic inflammatory myopathy ?,"The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year.  For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men."
14006,What is (are) Genetic Brain Disorders ?,"A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.    Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.    Some examples of genetic brain disorders include       - Leukodystrophies    - Phenylketonuria    - Tay-Sachs disease    - Wilson disease       Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening."
7845,"What is (are) Polyglucosan body disease, adult ?","Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may also have trouble controlling bladder function as a result of damage to the nerves of the bladder (neurogenic bladder). Approximately half of the individuals with adult polyglucosan body disease also experience some degree of intellectual impairment. Mutations in the GBE1 gene can cause adult polyglucosan body disease. In some cases, no mutation can be found and the cause of the disease is not known. Adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner. Treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment."
13665,What is (are) Throat Disorders ?,"Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx. The technical name for throat is pharynx.     Throat problems are common. You've probably had a sore throat. The cause is usually a viral infection, but other causes include allergies, infection with strep bacteria or the upward movement of stomach acids into the esophagus, called GERD.     Other problems that affect the throat include       - Tonsillitis - an infection in the tonsils    - Pharyngitis - inflammation of the pharynx     - Cancers     - Croup - inflammation, usually in small children, which causes a barking cough       Most throat problems are minor and go away on their own. Treatments, when needed, depend on the problem."
10184,"What are the symptoms of Macular dystrophy, concentric annular ?","What are the signs and symptoms of Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dyschromatopsia - Foveal hyperpigmentation - Macular dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
13408,What is (are) Malabsorption Syndromes ?,"Your small intestine does most of the digesting of the foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods.    Causes of malabsorption syndromes include       - Celiac disease    - Lactose intolerance    - Short bowel syndrome. This happens after surgery to remove half or more of the small intestine. You might need the surgery if you have a problem with the small intestine from a disease, injury, or birth defect.    - Whipple disease, a rare bacterial infection    - Genetic diseases    - Certain medicines       Symptoms of different malabsorption syndromes can vary. They often include chronic diarrhea, abnormal stools, weight loss, and gas. Your doctor may use lab, imaging, or other tests to make a diagnosis.    Treatment of malabsorption syndromes depends on the cause."
2865,What is (are) isolated Duane retraction syndrome ?,"Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia (""lazy eye""), a condition that causes vision loss in the affected eye.  About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands.  Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward."
9868,What are the symptoms of Microphthalmia syndromic 5 ?,"What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 5% Cryptorchidism 5% Ectopic posterior pituitary 5% Micropenis 5% Short stature 5% Autosomal dominant inheritance - Cataract - Coloboma - Joint laxity - Microcornea - Microphthalmia - Muscular hypotonia - Retinal dystrophy - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
6660,What is (are) La Crosse encephalitis ?,"La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-100 cases of this condition are reported each year in the United States. Most cases occur in children younger than age 16. While most people who become infected have no symptoms, those who do become ill may have fever, headache, vomiting and lethargy (tiredness). Severe cases develop encephalitis accompanied by seizures. Coma and paralysis occur in some cases. There is no specific treatment for LAC encephalitis. Supportive therapy is provided to those who develop severe cases of the disease."
5482,What are the symptoms of Carnitine-acylcarnitine translocase deficiency ?,"What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death. Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atrioventricular block - Autosomal recessive inheritance - Bradycardia - Cardiomyopathy - Cardiorespiratory arrest - Coma - Dicarboxylic aciduria - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Hepatomegaly - Hyperammonemia - Hypoglycemia - Hypotension - Irritability - Lethargy - Muscle weakness - Muscular hypotonia - Rhabdomyolysis - Seizures - Ventricular extrasystoles - Ventricular hypertrophy - Ventricular tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
4103,Is McKusick-Kaufman syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition."
3006,How many people are affected by pulmonary arterial hypertension ?,"In the United States, about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year. This disorder is twice as common in females as in males."
91,How many people are affected by capillary malformation-arteriovenous malformation syndrome ?,"CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown."
4098,Is carnitine palmitoyltransferase II deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition."
8088,Is Citrullinemia type I inherited ?,"How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition."
6297,What is (are) Littoral cell angioma of the spleen ?,"Littoral cell angioma (LCA)  is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy)."
6435,What are the treatments for Cutaneous mastocytosis ?,"How might cutaneous mastocytosis be treated? Although there is currently no cure for cutaneous mastocytosis, treatments are available to manage the symptoms of the condition. In general, it is recommended that affected people avoid things that trigger or worsen their symptoms when possible. Certain medications such as oral antihistamines and topical steroids are often prescribed to relieve symptoms. Affected adults may also undergo photochemotherapy which can help alleviate itching and improve the appearance of the patches; however, the condition is likely to recur within six to twelve months of the last treatment. People at risk for anaphylactic shock and/or their caregivers should be trained in how to recognize and treat this life-threatening reaction and should carry an epinephrine autoinjector at all times."
15180,What is (are) Q Fever ?,"More detailed information on the diagnosis, management, and treatment of Q fever is available in other sections of this web site and in the materials referenced in the section titled “Further Reading”.  
 How to Contact the Rickettsial Zoonoses Branch at CDC 
 
The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding Q fever. If a consultation with a CDC scientist specializing in Q fever is advised, your call will be appropriately forwarded. 
 Case Definitions 
 
As of January 1, 2009, Q fever infections are reported under distinct reporting categories described in the 2009 Q fever surveillance case definition.
2009 Q Fever Case Definition 
 Case Report Forms 
 
For confirmed and probable cases of Q fever that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF. 
   
   
    
   
  
 How to Submit Specimens to CDC for Q FeverTesting 
 
Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. Laboratory testing is available at many commercial laboratories. 
 State Health Departments 
 
Specimens may be submitted to CDC for reference testing for Q fever. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET).  
 U.S. Healthcare Providers 
 
Q fever laboratory testing is available at many commercial laboratories. U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department and request assistance with specimen submission and reporting of infection. For general questions about Q fever, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect Q fever case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on Q fever may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours.  
 Non-U.S. Healthcare Providers 
 
Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about Q fever, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect Q fever case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours."
2744,What are the treatments for facioscapulohumeral muscular dystrophy ?,These resources address the diagnosis or management of facioscapulohumeral muscular dystrophy:  - Gene Review: Gene Review: Facioscapulohumeral Muscular Dystrophy  - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy  - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy 2  - MedlinePlus Encyclopedia: Facioscapulohumeral Muscular Dystrophy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
10838,what research (or clinical trials) is being done for Alpers' Disease ?,"The NINDS supports research on gene-linked neurodegenerative disorders such as Alpers' disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them."
3066,How many people are affected by gyrate atrophy of the choroid and retina ?,More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland.
1269,What are the treatments for spondylocostal dysostosis ?,"These resources address the diagnosis or management of spondylocostal dysostosis:  - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive  - Genetic Testing Registry: Jarcho-Levin syndrome  - Genetic Testing Registry: Spondylocostal dysostosis 1  - Genetic Testing Registry: Spondylocostal dysostosis 2  - Genetic Testing Registry: Spondylocostal dysostosis 3  - Genetic Testing Registry: Spondylocostal dysostosis 4, autosomal recessive  - KidsHealth: X-Ray Exam (Scoliosis)  - MedlinePlus Encyclopedia: Scoliosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care"
10597,What is (are) Nonseminomatous germ cell tumor ?,"Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cell tumor (i.e., seminoma type). Possible early signs of this cancer include chest pain and breathing problems."
5829,What is (are) Jejunal atresia ?,"Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or ""atresia."" Common symptoms include feeding difficulties, failure to thrive, vomiting bile (a bitter-tasting yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery."
12098,Who is at risk for Oral Cavity and Oropharyngeal Cancer? ?,"The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. The number slightly decreased among black men and women.   Oral cavity and oropharyngeal cancer is more common in men than in women. Although oral cavity and oropharyngeal cancer may occur in adults of any age, it occurs most often in those aged 55 to 64 years.   France, Brazil, and parts of Asia have much higher rates of oral cavity and oropharyngeal cancer than most other countries.    The number of new cases of oropharyngeal cancer caused by certain types of human papillomavirus (HPV) infection has increased. One kind of HPV, called HPV 16, is often passed from one person to another during sexual activity."
52,What are the genetic changes related to Aicardi-Goutieres syndrome ?,"Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome.  The TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes provide instructions for making nucleases, which are enzymes that help break up molecules of DNA and its chemical cousin RNA. Mutations in any of these genes are believed to result in an absent or dysfunctional nuclease enzyme. Researchers suggest that absent or impaired enzyme function may result in the accumulation of unneeded DNA and RNA in cells. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), copying (replication) of cells' genetic material in preparation for cell division, DNA repair, cell death, and other processes. The unneeded DNA and RNA may be mistaken by cells for that of viral invaders, triggering immune system reactions that result in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutieres syndrome.  The SAMHD1 gene provides instructions for making a protein whose function is not well understood; however, it is believed to be involved in the immune system and the inflammatory process. Mutations in this gene likely result in a protein that does not function properly, resulting in immune system abnormalities, inflammatory damage to the brain and skin, and other characteristics of Aicardi-Goutieres syndrome."
15368,How to diagnose Nonalcoholic Steatohepatitis ?,"NASH is usually first suspected in a person who is found to have elevations in liver tests that are included in routine blood test panels, such as alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease (such as medications, viral hepatitis, or excessive use of alcohol) and when x rays or imaging studies of the liver show fat, NASH is suspected. The only means of proving a diagnosis of NASH and separating it from simple fatty liver is a liver biopsy. For a liver biopsy, a needle is inserted through the skin to remove a small piece of the liver. NASH is diagnosed when examination of the tissue with a microscope shows fat along with inflammation and damage to liver cells. If the tissue shows fat without inflammation and damage, simple fatty liver or NAFLD is diagnosed. An important piece of information learned from the biopsy is whether scar tissue has developed in the liver. Currently, no blood tests or scans can reliably provide this information."
11702,what research (or clinical trials) is being done for Back Pain ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct pain research in laboratories at the NIH and also support pain research through grants to major medical institutions across the country. Currently, researchers are examining the use of different drugs to effectively treat back pain, in particular, chronic pain that has lasted at least 6 months. Other studies are comparing different health care approaches to the management of acute low back pain (standard care versus chiropractic, acupuncture, or massage therapy). These studies are measuring symptom relief, restoration of function, and patient satisfaction. Other research is comparing standard surgical treatments to the most commonly used standard nonsurgical treatments to measure changes in health-related quality of life among patients suffering from spinal stenosis."
12804,What are the treatments for Peripheral Artery Disease ?,"Treatments for peripheral artery disease (P.A.D.) include lifestyle changes, medicines, and surgery or procedures.
                
The overall goals of treating P.A.D. include reducing risk of heart attack and stroke; reducing symptoms of claudication; improving mobility and overall quality of life; and preventing complications. Treatment is based on your signs and symptoms, risk factors, and the results of physical exams and tests.
                

                
Treatment may slow or stop the progression of the disease and reduce the risk of complications. Without treatment, P.A.D. may progress, resulting in serious tissue damage in the form of sores or gangrene (tissue death) due to inadequate blood flow. In extreme cases of P.A.D., also referred to as critical limb ischemia (CLI), removal (amputation) of part of the leg or foot may be necessary.
                

                

                
Lifestyle Changes
                
Treatment often includes making long-lasting lifestyle changes, such as:
                
Physical activity
                
Quitting smoking
                
Heart-healthy eating
                

                
Physical Activity
                
Routine physical activity can improve P.A.D. symptoms and lower many risk factors for atherosclerosis, including LDL (bad) cholesterol, high blood pressure, and excess weight. Exercise can improve the distances you can comfortably walk.
                
Talk with your doctor about taking part in a supervised exercise program. If a supervised program is not an option, ask your doctor to help you develop an exercise plan. Most exercise programs begin slowly, which includes simple walking alternating with rest. Over time, most people build up the amount of time they can walk before developing pain. The more active you are, the more you will benefit.
                

                

                
Quitting Smoking
                
If you smoke, quit. Smoking raises your risk for P.A.D. Smoking also raises your risk for other diseases, such as coronary heart disease and heart attack, and worsens other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhandsmoke.
                
If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
                

                
Read more about quitting smoking at Smoking and Your Heart.
                

                

                
Heart-Healthy Eating
                
Your doctor may recommend heart-healthy eating to treat atherosclerosis, the most common cause of P.A.D. Following heart-healthy eating can help control blood pressure and cholesterol levels, which can lead to atherosclerosis.
                

                
Medicines
                
Your doctor may prescribe medicines to:
                
Prevent blood clots from forming due to low blood flow with anticlotting medicines, such as aspirin.
                
Treat unhealthy cholesterol levels with statins. Statins control or lower blood cholesterol. By lowering your blood cholesterol level, you can decrease your chance of developing complications from P.A.D.
                
Treat high blood pressure with one of many high blood pressure medicines.
                
Help ease leg pain that occurs when you walk or climb stairs.
                
Reduce the symptoms of intermittent claudication, measured by increased walking distance with certain platelet-aggregation inhibitors.
                

                
Surgery or Procedures
                
Bypass Grafting
                
Your doctor may recommend bypass grafting surgery if blood flow in your limb is blocked or nearly blocked. For this surgery, your doctor uses a blood vessel from another part of your body or a synthetic tube to make a graft.
                
This graft bypasses (that is, goes around) the blocked part of the artery. The bypass allows blood to flow around the blockage. This surgery doesnt cure P.A.D., but it may increase blood flow to the affected limb.
                

                
Angioplasty and Stent Placement
                
Your doctor may recommend angioplasty to restore blood flow through a narrowed or blockedartery.
                
During this procedure, a catheter (thin tube) with a balloon at the tip is inserted into a blocked artery. The balloon is then inflated, which pushes plaque outward against the artery wall. This widens the artery and restores blood flow.
                

                
A stent (a small mesh tube) may be placed in the artery during angioplasty. A stent helps keep the artery open after angioplasty is done. Some stents are coated with medicine to help prevent blockages in the artery.
                

                
Atherectomy
                
Atherectomy is a procedure that removes plaque buildup from an artery. During the procedure, a catheter is used to insert a small cutting device into the blocked artery. The device is used to shave or cut off plaque.
                
The bits of plaque are removed from the body through the catheter or washed away in the bloodstream (if theyre small enough).
                

                
Doctors also can perform atherectomy using a special laser that dissolves the blockage.
                

                
Other Types of Treatment
                
Researchers are studying cell and gene therapies to treat P.A.D. However, these treatments arent yet available outside of clinical trials. Read more about clinicaltrials."
12840,What are the symptoms of Heart Attack ?,"Not all heart attacks begin with the sudden, crushing chest pain that often is shown on TV or in the movies. In one study, for example, one-third of the patients who had heart attacks had no chest pain. These patients were more likely to be older, female, or diabetic.
                
The symptoms of a heart attack can vary from person to person. Some people can have few symptoms and are surprised to learn they've had a heart attack. If you've already had a heart attack, your symptoms may not be the same for another one. It is important for you to know the most common symptoms of a heart attack and also remember these facts:
                
Heart attacks can start slowly and cause only mild pain or discomfort. Symptoms can be mild or more intense and sudden. Symptoms also may come and go over several hours.
                
People who have high blood sugar (diabetes) may have no symptoms or very mild ones.
                
The most common symptom, in both men and women, is chest pain or discomfort.
                
Women are somewhat more likely to have shortness of breath, nausea and vomiting, unusual tiredness (sometimes for days), and pain in the back, shoulders, and jaw.
                
Some people don't have symptoms at all. Heart attacks that occur without any symptoms or with very mild symptoms are called silent heart attacks.
                
Most Common Symptoms
                
The most common warning symptoms of a heart attack for both men and women are:
                
Chest pain or discomfort.Most heart attacks involve discomfort in the center or left side of the chest. The discomfort usually lasts for more than a few minutes or goes away and comes back. It can feel like pressure, squeezing, fullness, or pain. It also can feel like heartburn or indigestion. The feeling can be mild or severe.
                
Upper body discomfort.You may feel pain or discomfort in one or both arms, the back, shoulders, neck, jaw, or upper part of the stomach (above the belly button).
                
Shortness of breath.This may be your only symptom, or it may occur before or along with chest pain or discomfort. It can occur when you are resting or doing a little bit of physical activity.
                
The symptoms of angina (an-JI-nuh or AN-juh-nuh) can be similar to the symptoms of a heart attack. Angina is chest pain that occurs in people who have coronary heart disease, usually when they're active. Angina pain usually lasts for only a few minutes and goes away with rest.
                
Chest pain or discomfort that doesn't go away or changes from its usual pattern (for example, occurs more often or while you're resting) can be a sign of a heart attack.
                
All chest pain should be checked by a doctor.
                
Other Common Signs and Symptoms
                
Pay attention to these other possible symptoms of a heart attack:
                
Breaking out in a cold sweat
                
Feeling unusually tired for no reason, sometimes for days (especially if you are a woman)
                
Nausea (feeling sick to the stomach) and vomiting
                
Light-headedness or sudden dizziness
                
Any sudden, new symptoms or a change in the pattern of symptoms you already have (for example, if your symptoms become stronger or last longer than usual)
                
Not everyone having a heart attack has typical symptoms. If you've already had a heart attack, your symptoms may not be the same for another one. However, some people may have a pattern of symptoms that recur.
                
The more signs and symptoms you have, the more likely it is that you're having a heart attack.
                
Quick Action Can Save Your Life: Call 911
                
The signs and symptoms of a heart attack can develop suddenly. However, they also can develop slowlysometimes within hours, days, or weeks of a heart attack.
                
Any time you think you might be having heart attack symptoms or a heart attack, don't ignore it or feel embarrassed to call for help. Call 911 for emergency medical care, even if you are not sure whether you're having a heart attack. Here's why:
                
Acting fast can save your life.
                
An ambulance is the best and safest way to get to the hospital. Emergency medical services (EMS) personnel can check how you are doing and start life-saving medicines and other treatments right away. People who arrive by ambulance often receive faster treatment at the hospital.
                
The 911 operator or EMS technician can give you advice. You might be told to crush or chew an aspirin if you're not allergic, unless there is a medical reason for you not to take one. Aspirin taken during a heart attack can limit the damage to your heart and save your life.
                
Every minute matters. Never delay calling 911 to take aspirin or do anything else you think might help."
2694,What are the treatments for holocarboxylase synthetase deficiency ?,These resources address the diagnosis or management of holocarboxylase synthetase deficiency:  - Baby's First Test  - Genetic Testing Registry: Holocarboxylase synthetase deficiency  - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
11607,What is (are) Rasmussen's Encephalitis ?,"Rasmussens encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. Most individuals with Rasmussens encephalitis will experience frequent seizures and progressive brain damage in the affected hemisphere of the brain over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits. Rasmussens encephalitis has features of an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage.Research is ongoing into the causes of this rare disease."
2424,What are the treatments for Duane-radial ray syndrome ?,These resources address the diagnosis or management of Duane-radial ray syndrome:  - Gene Review: Gene Review: SALL4-Related Disorders  - Genetic Testing Registry: Duane-radial ray syndrome  - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
1369,What are the treatments for Rabson-Mendenhall syndrome ?,These resources address the diagnosis or management of Rabson-Mendenhall syndrome:  - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
11013,What is the outlook for Landau-Kleffner Syndrome ?,"The prognosis for children with LKS varies. Some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). In some cases, remission and relapse may occur. The prognosis is improved when the onset of the disorder is after age 6 and when speech therapy is started early. Seizures generally disappear by adulthood."
8347,What are the symptoms of Dystonia 18 ?,"What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Irritability 5% Migraine 5% Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Choreoathetosis - Cognitive impairment - Dyskinesia - Dystonia - EEG abnormality - Hypoglycorrhachia - Incomplete penetrance - Reticulocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common."
5580,How to diagnose Anophthalmia plus syndrome ?,"How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out."
1891,How many people are affected by spinal muscular atrophy ?,"Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people."
12068,What is (are) Childhood Ependymoma ?,"Key Points
                    - Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord.    - There are different types of ependymomas.    - The part of the brain that is affected depends on where the ependymoma forms.    - The cause of most childhood brain tumors is unknown.    - The signs and symptoms of childhood ependymoma are not the same in every child.    - Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma.    - Childhood ependymoma is diagnosed and removed in surgery.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord.
                    The brain controls vital functions such as memory and learning, emotion, and the senses (hearing, sight, smell, taste, and touch). The spinal cord is made up of bundles of nerve fibers that connect the brain with nerves in most parts of the body.    Ependymomas form from ependymal cells that line the ventricles and passageways in the brain and the spinal cord. Ependymal cells make cerebrospinal fluid (CSF).    This summary is about the treatment of primary brain tumors (tumors that begin in the brain). Treatment of metastatic brain tumors, which are tumors that begin in other parts of the body and spread to the brain, is not discussed in this summary.    There are many different types of brain tumors. Brain tumors can occur in both children and adults. However, treatment for children is different than treatment for adults. See the following PDQ summaries for more information:         -  Childhood Brain and Spinal Cord Tumors Treatment Overview     -  Adult Central Nervous System Tumors Treatment
                
                
                    There are different types of ependymomas.
                    The World Health Organization (WHO) groups ependymal tumors into five main subtypes:         - Subependymoma (WHO Grade I).    - Myxopapillary ependymoma (WHO Grade I).    - Ependymoma (WHO Grade II).    -  RELA fusionpositive ependymoma (WHO Grade II or Grade III with change in the RELA gene).    - Anaplastic ependymoma (WHO Grade III).        The grade of a tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. Low-grade (Grade I) cancer cells look more like normal cells than high-grade cancer cells (Grade II and III). They also tend to grow and spread more slowly than Grade II and III cancer cells.
                
                
                    The part of the brain that is affected depends on where the ependymoma forms.
                    Ependymomas can form anywhere in the fluid -filled ventricles and passageways in the brain and spinal cord. Most ependymomas form in the fourth ventricle and affect the cerebellum and the brain stem.      Once an ependymoma forms, areas of the brain that may be affected include:          -  Cerebrum: The largest part of the brain, at the top of the head. The cerebrum controls thinking, learning, problem-solving, speech, emotions, reading, writing, and voluntary movement.     -  Cerebellum: The lower, back part of the brain (near the middle of the back of the head). The cerebellum controls movement, balance, and posture.     -  Brain stem: The part that connects the brain to the spinal cord, in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating.    -  Spinal cord: The column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. The spinal cord and membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch."
12769,What are the symptoms of Hypotension ?,"Orthostatic Hypotension and Neurally Mediated Hypotension
                
The signs and symptoms of orthostatic hypotension and neurally mediated hypotension (NMH) are similar. They include:
                
Dizziness or light-headedness
                
Blurry vision
                
Confusion
                
Weakness
                
Fatigue (feeling tired)
                
Nausea (feeling sick to your stomach)
                
Orthostatic hypotension may happen within a few seconds or minutes of standing up after you've been sitting or lying down.
                
You may feel that you're going to faint, or you may actually faint. These signs and symptoms go away if you sit or lie down for a few minutes until your blood pressure adjusts to normal.
                
The signs and symptoms of NMH occur after standing for a long time or in response to an unpleasant, upsetting, or scary situation. The drop in blood pressure with NMH doesn't last long and often goes away after sitting down.
                
Severe Hypotension Linked to Shock
                
In shock, not enough blood and oxygen flow to the body's major organs, including the brain. The early signs and symptoms of reduced blood flow to the brain include light-headedness, sleepiness, and confusion.
                
In the earliest stages of shock, it may be hard to detect any signs or symptoms. In older people, the first symptom may only be confusion.
                
Over time, as shock worsens, a person won't be able to sit up without passing out. If the shock continues, the person will lose consciousness. Shock often is fatal if not treated right away.
                
Other signs and symptoms of shock vary, depending on what's causing the shock. When low blood volume (from major blood loss, for example) or poor pumping action in the heart (from heart failure, for example) causes shock:
                
The skin becomes cold and sweaty. It often looks blue or pale. If pressed, the color returns to normal more slowly than usual. A bluish network of lines appears under the skin.
                
The pulse becomes weak and rapid.
                
The person begins to breathe very quickly.
                
When extreme relaxation of blood vessels causes shock (such as in vasodilatory shock), a person feels warm and flushed at first. Later, the skin becomes cold and sweaty, and the person feels very sleepy.
                
Shock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911."