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treatment | What are the treatments for Glaucoma ? | Although open-angle glaucoma cannot be cured, it can usually be controlled. While treatments may save remaining vision, they do not improve sight already lost from glaucoma. The most common treatments for glaucoma are medication and surgery. Medications Medications for glaucoma may be either in the form of eye drops or pills. Some drugs reduce pressure by slowing the flow of fluid into the eye. Others help to improve fluid drainage. (Watch the video to learn more about coping with glaucoma. 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.) For most people with glaucoma, regular use of medications will control the increased fluid pressure. But, these drugs may stop working over time. Or, they may cause side effects. If a problem occurs, the eye care professional may select other drugs, change the dose, or suggest other ways to deal with the problem. Read or listen to ways some patients are coping with glaucoma. Surgery Laser surgery is another treatment for glaucoma. During laser surgery, a strong beam of light is focused on the part of the anterior chamber where the fluid leaves the eye. This results in a series of small changes that makes it easier for fluid to exit the eye. Over time, the effect of laser surgery may wear off. Patients who have this form of surgery may need to keep taking glaucoma drugs. Researching Causes and Treatments Through studies in the laboratory and with patients, NEI is seeking better ways to detect, treat, and prevent vision loss in people with glaucoma. For example, researchers have discovered genes that could help explain how glaucoma damages the eye. NEI also is supporting studies to learn more about who is likely to get glaucoma, when to treat people who have increased eye pressure, and which treatment to use first. |
symptoms | What are the symptoms of Warm antibody hemolytic anemia ? | What are the signs and symptoms of Warm antibody hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Warm antibody hemolytic anemia. 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 erythrocytes 90% Autoimmunity 90% Migraine 90% Pallor 90% Arthralgia 50% Hematological neoplasm 50% Skin rash 50% Abnormality of temperature regulation 7.5% Abnormality of the liver 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 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. |
susceptibility | Who is at risk for Angina? ? | Angina is a symptom of an underlying heart problem. Its usually a symptom of coronary heart disease (CHD), but it also can be a symptom of coronary microvascular disease (MVD). So, if youre at risk for CHD or coronary MVD, youre also at risk for angina.
The major risk factors for CHD and coronary MVD include:
Unhealthy cholesterol levels.
High blood pressure.
Smoking.
Insulin resistance or diabetes.
Overweight or obesity.
Metabolic syndrome.
Lack of physical activity.
Unhealthy diet.
Older age. (The risk increases for men after 45 years of age and for women after 55 years of age.)
Family history of early heart disease.
For more detailed information about CHD and coronary MVD risk factors, visit the Diseases and Conditions Index Coronary Heart Disease, Coronary Heart Disease Risk Factors, and Coronary Microvascular Disease articles.
People sometimes think that because men have more heart attacks than women, men also suffer from angina more often. In fact, overall, angina occurs equally among men and women.
Microvascular angina, however, occurs more often in women. About 70 percent of the cases of microvascular angina occur in women around the time of menopause.
Unstable angina occurs more often in older adults. Variant angina is rare; it accounts for only about 2 out of 100 cases of angina. People who have variant angina often are younger than those who have other forms of angina. |
genetic changes | What are the genetic changes related to Denys-Drash syndrome ? | Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and kidneys and gonads (ovaries in females and testes in males) before birth. WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis and gonadal dysgenesis, which are characteristic of Denys-Drash syndrome. Abnormal gene activity caused by the loss of normal WT1 protein increases the risk of developing Wilms tumor in affected individuals. Denys-Drash syndrome has features similar to another condition called Frasier syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct conditions. |
genetic changes | What are the genetic changes related to prostate cancer ? | Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases of prostate cancer, these genetic changes are acquired during a man's lifetime and are present only in certain cells in the prostate. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in prostate cancer cells. Less commonly, genetic changes present in essentially all of the body's cells increase the risk of developing prostate cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop prostate cancer. Inherited mutations in particular genes, such as BRCA1, BRCA2, and HOXB13, account for some cases of hereditary prostate cancer. Men with mutations in these genes have a high risk of developing prostate cancer and, in some cases, other cancers during their lifetimes. In addition, men with BRCA2 or HOXB13 gene mutations may have a higher risk of developing life-threatening forms of prostate cancer. The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. For this reason, the BRCA1 and BRCA2 proteins are considered to be tumor suppressors, which means that they help keep cells from growing and dividing too fast or in an uncontrolled way. Mutations in these genes impair the cell's ability to fix damaged DNA, allowing potentially damaging mutations to persist. As these defects accumulate, they can trigger cells to grow and divide uncontrollably and form a tumor. The HOXB13 gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the protein produced from the HOXB13 gene is called a transcription factor. Like BRCA1 and BRCA2, the HOXB13 protein is thought to act as a tumor suppressor. HOXB13 gene mutations may result in impairment of the protein's tumor suppressor function, resulting in the uncontrolled cell growth and division that can lead to prostate cancer. Inherited variations in dozens of other genes have been studied as possible risk factors for prostate cancer. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1, BRCA2, or HOXB13 genes. Others act as tumor suppressors through different pathways. Changes in these genes probably make only a small contribution to overall prostate cancer risk. However, researchers suspect that the combined influence of variations in many of these genes may significantly impact a person's risk of developing this form of cancer. In many families, the genetic changes associated with hereditary prostate cancer are unknown. Identifying additional genetic risk factors for prostate cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that may contribute to a person's risk of developing prostate cancer. These factors include a high-fat diet that includes an excess of meat and dairy and not enough vegetables, a largely inactive (sedentary) lifestyle, obesity, excessive alcohol use, or exposure to certain toxic chemicals. A history of prostate cancer in closely related family members is also an important risk factor, particularly if the cancer occurred at an early age. |
information | What is (are) Bedbugs ? | Bedbugs bite you and feed on your blood. You may have no reaction to the bites, or you may have small marks or itching. Severe allergic reactions are rare. Bedbugs don't transmit or spread diseases. Adult bedbugs are brown, 1/4 to 3/8 inch long, and have a flat, oval-shaped body. Young bedbugs (called nymphs) are smaller and lighter in color. Bedbugs hide in a variety of places around the bed. They might also hide in the seams of chairs and couches, between cushions, and in the folds of curtains. They come out to feed about every five to ten days. But they can survive over a year without feeding. To prevent bedbugs in your home: - Check secondhand furniture for any signs of bedbugs before bringing it home. - Use a protective cover that encases mattresses and box springs. Check it regularly for holes. - Reduce clutter in your home so they have fewer places to hide. - Unpack directly into your washing machine after a trip and check your luggage carefully. When staying in hotels, put your suitcases on luggage racks instead of the floor. Check the mattress and headboard for signs of bedbugs. To get rid of bedbugs: - Wash and dry bedding and clothing at high temperatures. - Use mattress, box spring, and pillow encasements to trap bedbugs and help detect infestations. - Use pesticides if needed. Environmental Protection Agency |
treatment | What are the treatments for neuroferritinopathy ? | These resources address the diagnosis or management of neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy 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 |
genetic changes | What are the genetic changes related to nemaline myopathy ? | Mutations in one of many genes can cause nemaline myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. Within skeletal muscle cells, these proteins are found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Many of the proteins associated with nemaline myopathy interact within the sarcomere to facilitate muscle contraction. When the skeletal muscle cells of people with nemaline myopathy are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain rod-like structures called nemaline bodies. Most cases of nemaline myopathy with a known genetic cause result from mutations in one of two genes, NEB or ACTA1. NEB gene mutations account for about 50 percent of all cases of nemaline myopathy and ACTA1 gene mutations account for 15 to 25 percent of all cases. When nemaline myopathy is caused by NEB gene mutations, signs and symptoms are typically present at birth or beginning in early childhood. When nemaline myopathy is caused by ACTA1 gene mutations, the condition's severity and age of onset vary widely. Mutations in the other genes associated with nemaline myopathy each account for only a small percentage of cases. Mutations in any of the genes associated with nemaline myopathy lead to disorganization of the proteins found in the sarcomeres of skeletal muscles. The disorganized proteins cannot interact normally, which disrupts muscle contraction. Inefficient muscle contraction leads to muscle weakness and the other features of nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. |
symptoms | What are the symptoms of Bone dysplasia lethal Holmgren type ? | What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. 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 femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - 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. |
treatment | What are the treatments for Sacrococcygeal Teratoma ? | How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both prenatal and postnatal surgery for SCT, visit the following links from The Children's Hospital of Philadelphia (CHOP) http://www.chop.edu/treatments/fetal-surgery-sacrococcygeal-teratoma-sct/about#.VqGW_PkrJD8 http://www.chop.edu/treatments/postnatal-surgery-sacrococcygeal-teratoma-sct#.VqGX7vkrJD8 |
information | What is (are) Spondylocostal dysostosis 1 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 1 is caused by mutations in the DLL3 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. |
information | What is (are) Twins, Triplets, Multiple Births ? | If you are pregnant with more than one baby, you are far from alone. Multiple births are up in the United States. More women are having babies after age 30 and more are taking fertility drugs. Both boost the chance of carrying more than one baby. A family history of twins also makes multiples more likely. Years ago, most twins came as a surprise. Now, most women know about a multiple pregnancy early. Women with multiple pregnancies should see their health care providers more often than women who are expecting one baby. Multiple pregnancy babies have a much higher risk of being born prematurely and having a low birth weight. There is also more of a risk of disabilities. Some women have to go on bed rest to delay labor. Finally, they may deliver by C-section, especially if there are three babies or more. Parenting multiples can be a challenge. Volunteer help and support groups for parents of multiples can help. Dept. of Health and Human Services Office on Women's Health |
treatment | What are the treatments for Financial Help for Diabetes Care ? | Diabetes management and treatment is expensive. According to the American Diabetes Association (ADA), the average cost of health care for a person with diabetes is $13,741 a yearmore than twice the cost of health care for a person without diabetes.1
Many people who have diabetes need help paying for their care. For those who qualify, a variety of government and nongovernment programs can help cover health care expenses. This publication is meant to help people with diabetes and their family members find and access such resources. |
research | what research (or clinical trials) is being done for Transmissible Spongiform Encephalopathies ? | The NINDS conducts and supports research on TSEs. This research is aimed at determining how abnormal prion proteins lead to disease, at finding better tests for diagnosing CJD and other disorders, and ultimately at finding ways to treat TSEs. |
treatment | What are the treatments for autosomal dominant partial epilepsy with auditory features ? | These resources address the diagnosis or management of ADPEAF: - Gene Review: Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features - Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant - MedlinePlus Encyclopedia: Partial (Focal) Seizure - MedlinePlus Encyclopedia: Seizures 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 |
treatment | What are the treatments for galactosialidosis ? | These resources address the diagnosis or management of galactosialidosis: - Genetic Testing Registry: Combined deficiency of sialidase AND beta galactosidase - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Hydrops fetalis 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 |
information | What is (are) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses. Most affected individuals begin to develop movement problems during childhood or adolescence. However, in some individuals, these problems do not develop until adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). In addition, affected individuals lose the ability to sense the position of their limbs or vibrations with their limbs. These movement and sensation problems affect the legs more than the arms, making walking difficult. Most affected individuals eventually require wheelchair assistance, sometimes as early as their teens, although the age varies. People with LBSL can have other signs and symptoms of the condition. Some affected individuals develop recurrent seizures (epilepsy), speech difficulties (dysarthria), learning problems, or mild deterioration of mental functioning. Some people with this disorder are particularly vulnerable to severe complications following minor head trauma, which may trigger a loss of consciousness, other reversible neurological problems, or fever. Distinct changes in the brains of people with LBSL can be seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve particular parts of the white matter of the brain and specific regions (called tracts) within the brain stem and spinal cord, especially the pyramidal tract and the dorsal column. In addition, most affected individuals have a high level of a substance called lactate in the white matter of the brain, which is identified using another test called magnetic resonance spectroscopy (MRS). |
exams and tests | How to diagnose Branchiooculofacial syndrome ? | How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. |
outlook | What is the outlook for Adult Acute Myeloid Leukemia ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The age of the patient. - The subtype of AML. - Whether the patient received chemotherapy in the past to treat a different cancer. - Whether there is a history of a blood disorder such as myelodysplastic syndrome. - Whether the cancer has spread to the central nervous system. - Whether the cancer has been treated before or recurred (come back). It is important that acute leukemia be treated right away. |
symptoms | What are the symptoms of Leigh syndrome, French Canadian type ? | What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. 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) Seizures 5% Anteverted nares - Ataxia - Autosomal recessive inheritance - CNS demyelination - Delayed speech and language development - Failure to thrive - Gliosis - Highly arched eyebrow - Hirsutism - Hyperglycemia - Hypertelorism - Hypoglycemia - Hypoplasia of midface - Increased CSF lactate - Increased hepatocellular lipid droplets - Increased serum lactate - Infantile onset - Lactic acidosis - Low anterior hairline - Malar flattening - Microvesicular hepatic steatosis - Muscular hypotonia - Peripheral demyelination - Prominent forehead - Strabismus - Tachypnea - Tremor - Wide nasal bridge - 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. |
information | What is (are) Leukemia ? | Leukemia is a cancer of the blood cells. It usually begins in the bone marrow where blood cells are formed. In leukemia, the bone marrow produces abnormal white blood cells. Over time, as the number of abnormal white blood cells builds up in the blood, they crowd out healthy blood cells. This makes it difficult for the blood to carry out its normal functions. |
genetic changes | What are the genetic changes related to hypohidrotic ectodermal dysplasia ? | Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands. Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm and impair the normal development of hair, sweat glands, and teeth. The improper formation of these ectodermal structures leads to the characteristic features of hypohidrotic ectodermal dysplasia. |
information | What is (are) Rh Incompatibility ? | There are four major blood types: A, B, O, and AB. The types are based on substances on the surface of the blood cells. Another blood type is called Rh. Rh factor is a protein on red blood cells. Most people are Rh-positive; they have Rh factor. Rh-negative people don't have it. Rh factor is inherited though genes. When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance. It will create antibodies (proteins) against the baby's blood. These antibodies usually don't cause problems during a first pregnancy. But Rh incompatibility may cause problems in later pregnancies, if the baby is Rh-positive. This is because the antibodies stay in your body once they have formed. The antibodies can cross the placenta and attack the baby's red blood cells. The baby could get Rh disease, a serious condition that can cause a serious type of anemia. Blood tests can tell whether you have Rh factor and whether your body has made antibodies. Injections of a medicine called Rh immune globulin can keep your body from making Rh antibodies. It helps prevent the problems of Rh incompatibility. If treatment is needed for the baby, it can include supplements to help the body to make red blood cells and blood transfusions. NIH: National Heart, Lung, and Blood Institute |
causes | What causes Phacomatosis pigmentovascularis ? | What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small. |
information | What is (are) BRCA2 hereditary breast and ovarian cancer syndrome ? | BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries. |
symptoms | What are the symptoms of Hemochromatosis ? | Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases.
Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigue (tiredness). In men, complications such as diabetes or cirrhosis (scarring of the liver) often are the first signs of the disease.
Signs and symptoms also vary based on the severity of the disease. Common signs and symptoms of hemochromatosis include joint pain, fatigue, general weakness, weight loss, and stomach pain.
Not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms.
Hemochromatosis Complications
If hemochromatosis isn't found and treated early, iron builds up in your body and can lead to:
Liver disease, including an enlarged liver, liver failure, liver cancer, or cirrhosis (scarring of the liver)
Heart problems, including arrhythmias (irregular heartbeats) and heart failure
Diabetes, especially in people who have a family history of diabetes
Joint damage and pain, including arthritis
Reproductive organ failure, such as erectile dysfunction (impotence), shrinkage of the testicles, and loss of sex drive in men, and absence of the menstrual cycle and early menopause in women
Changes in skin color that make the skin look gray or bronze
Underactive pituitary and thyroid glands
Damage to the adrenal glands |
symptoms | What are the symptoms of Keratosis follicularis spinulosa decalvans ? | What are the signs and symptoms of Keratosis follicularis spinulosa decalvans? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis spinulosa decalvans. 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hyperkeratosis 90% Ichthyosis 90% Abnormality of the fingernails 50% Blepharitis 50% Myopia 50% Opacification of the corneal stroma 50% Retinal detachment 50% Abnormality of dental color 7.5% Abnormality of dental enamel 7.5% Carious teeth 7.5% Eczema 7.5% Conjunctivitis - Corneal dystrophy - Dry skin - Dystrophic fingernails - Ectropion - Facial erythema - Follicular hyperkeratosis - Heterogeneous - Keratitis - Nail dysplasia - Palmoplantar keratoderma - Perifollicular fibrosis - Photophobia - Scarring alopecia of scalp - Sparse eyebrow - Sparse eyelashes - 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. |
frequency | How many people are affected by malignant migrating partial seizures of infancy ? | MMPSI is a rare condition. Although its prevalence is unknown, approximately 100 cases have been described in the medical literature. |
susceptibility | Who is at risk for What I need to know about Crohn's Disease? ? | Both men and women can get Crohn's disease, and it can run in families. People with Crohns disease may have a blood relative with the disease or another type of IBD. Crohns disease most commonly starts between the ages of 13 and 30. |
information | What is (are) dentatorubral-pallidoluysian atrophy ? | Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia). |
treatment | What are the treatments for Parasites - Zoonotic Hookworm ? | The zoonotic hookworm larvae that cause cutaneous larva migrans (CLM) usually do not survive more than 5 – 6 weeks in the human host. In most patients with CLM, the signs and symptoms resolve without medical treatment. However, treatment may help control symptoms and help prevent secondary bacterial infections. Antiparasitic treatments may be prescribed by your health care provider.
More on: Resources For Health Professionals: Treatment |
causes | What causes Craniometaphyseal dysplasia, autosomal recessive type ? | What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling. The exact mechanism involved is yet to be determined. |
frequency | How many people are affected by X-linked congenital stationary night blindness ? | The prevalence of this condition is unknown. It appears to be more common in people of Dutch-German Mennonite descent. However, this disorder has been reported in families with many different ethnic backgrounds. The incomplete form is more common than the complete form. |
considerations | What to do for What I need to know about Lactose Intolerance ? | Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends.
Milk and milk products. You may be able to have milk and milk products without symptoms if you
- drink small amounts of milkhalf a cup or lessat a time - drink small amounts of milk with meals, such as having milk with cereal or having cheese with crackers - add small amounts of milk and milk products to your diet a little at a time and see how you feel - eat milk products that are easier for people with lactose intolerance to break down: - yogurt - hard cheeses such as cheddar and Swiss
Lactose-free and lactose-reduced milk and milk products. You can find lactose-free and lactose-reduced milk and milk products at the grocery store. These products are just as healthy for you as regular milk and milk products.
Lactase products. You can use lactase tablets and drops when you have milk and milk products. The lactase enzyme breaks down the lactose in food. Using lactase tablets or drops can help you prevent symptoms of lactose intolerance. Check with your doctor before using these products. Some people, such as young children and pregnant and breastfeeding women, may not be able to use these products.
Calcium and Vitamin D If you are lactose intolerant, make sure you get enough calcium each day. Milk and milk products are the most common sources of calcium. Other foods that contain calcium include - fish with soft bones, such as canned salmon or sardines - broccoli and other leafy green vegetables - oranges - almonds, Brazil nuts, and dried beans - tofu - products with the label showing added calcium, such as cereals, fruit juices, and soy milk Vitamin D helps the body absorb and use calcium. Be sure to eat foods that contain vitamin D, such as eggs, liver, and certain kinds of fish, such as salmon. Also, being outside in the sunlight helps your body make vitamin D. Some companies add vitamin D to milk and milk products. If you are able to drink small amounts of milk or eat yogurt, choose those that have vitamin D added. Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. Read more at www.ods.od.nih.gov and www.nccam.nih.gov. |
information | What is (are) oculofaciocardiodental syndrome ? | Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness. People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate. Heart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse). Teeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. |
treatment | What are the treatments for Kidney Disease ? | Different Treatments for Different Stages There are several types of treatments related to kidney disease. Some are used in earlier stages of kidney disease to protect your kidneys. These medications and lifestyle changes help you maintain kidney function and delay kidney failure. Other treatments, such as dialysis and transplantation, are used to treat kidney failure. These methods help replace kidney function if your own kidneys have stopped working. Treatments for Early Kidney Disease Treatments for early kidney disease include both diet and lifestyle changes and medications. - Making heart-healthy food choices and exercising regularly to maintain a healthy weight can help prevent the diseases that cause further kidney damage. - If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. - Choose and prepare foods with less salt and sodium. Aim for less than 2,300 milligrams of sodium each day. - Eat the right amount of protein. Although it is important to eat enough protein to stay healthy, excess protein makes your kidneys work harder. Eating less protein may help delay progression to kidney failure. Talk to your dietitian or other health care provider about what is the right amount of protein for you. - If you have been diagnosed with kidney disease, ask your doctor about seeing a dietitian. A dietitian can teach you how to choose foods that are easier on your kidneys. You will also learn about the nutrients that matter for kidney disease. You can find a dietitian near you through the Academy of Nutrition and Dietetics directory. - If you smoke, take steps to quit. Cigarette smoking can make kidney damage worse. Making heart-healthy food choices and exercising regularly to maintain a healthy weight can help prevent the diseases that cause further kidney damage. If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. Choose and prepare foods with less salt and sodium. Aim for less than 2,300 milligrams of sodium each day. Eat the right amount of protein. Although it is important to eat enough protein to stay healthy, excess protein makes your kidneys work harder. Eating less protein may help delay progression to kidney failure. Talk to your dietitian or other health care provider about what is the right amount of protein for you. If you have been diagnosed with kidney disease, ask your doctor about seeing a dietitian. A dietitian can teach you how to choose foods that are easier on your kidneys. You will also learn about the nutrients that matter for kidney disease. You can find a dietitian near you through the Academy of Nutrition and Dietetics directory. If you smoke, take steps to quit. Cigarette smoking can make kidney damage worse. Medicines Medicines can also help protect the kidneys. People with kidney disease often take medicines to lower blood pressure, control blood glucose, and lower blood cholesterol. Two types of blood pressure medicines -- angiotensin-converting enzyme (ACE) inhibitors, and angiotensin receptor blockers (ARBs) -- may protect the kidneys and delay kidney failure. These medicines may even protect kidney function in people who don't have high blood pressure. The most important step you can take to treat kidney disease is to control your blood pressure. Many people need two or more medicines to keep their blood pressure at a healthy level. For most people, the blood pressure target is less than 140/90 mm Hg. An ACE inhibitor, ARB, or diuretic (water pill) may help control blood pressure. Your healthcare provider will work with you to choose the right medicines for you. (Watch the video to learn more about medications and kidney disease. 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.) Be Safe With Your Medicines Some older adults with kidney disease may take medicines for other diseases as well. If you have kidney disease, you need to be careful about all the medicines you take. Your kidneys do not filter as well as they did in the past. This can cause an unsafe buildup of medicines in your blood. Some medicines can also harm your kidneys. As kidney disease progresses, your doctor may need to change the dose (or amount) of all medicines that affect the kidney or are removed by the kidney. You may need to take some medicines in smaller amounts or less often. You may also need to stop taking a medicine or switch to a different one. Effects of NSAID Drugs Non-steroidal anti-inflammatory drugs (NSAIDs) can harm your kidneys, especially if you have kidney disease, diabetes, and high blood pressure. NSAIDs include common over-the-counter and prescription medicines for headaches, pain, fever, or colds. Ibuprofen and naproxen are NSAIDs, but NSAIDs are sold under many different brand names. If you have kidney disease, do not use NSAIDs. Ask your pharmacist or health care provider if the medicines you take are safe to use. You also can look for NSAIDs on Drug Facts labels. |
information | What is (are) Brachial Plexus Injuries ? | The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the babys shoulder is stretched during passage in the birth canal (see Brachial Plexus Birth Injuries).
The severity of a brachial plexus injury is determined by the type of damage done to the nerves. The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch injury, is the mildest type of injury Neuropraxia damages the protective covering of the nerve, which causes problems with nerve signal conduction, but does not always damage the nerve underneath. |
symptoms | What are the symptoms of Majeed syndrome ? | What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms. The Human Phenotype Ontology provides the following list of signs and symptoms for Majeed 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 temperature regulation 90% Abnormality of the metaphyses 90% Arthralgia 90% Bone pain 90% Microcytic anemia 90% Osteomyelitis 90% Pustule 90% Skin rash 90% Weight loss 90% Acne 50% Arthritis 50% Edema 50% Hepatomegaly 50% Hyperostosis 50% Leukocytosis 50% Migraine 50% Myalgia 50% Splenomegaly 50% Abnormal blistering of the skin 7.5% Abnormality of bone mineral density 7.5% Flexion contracture 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Recurrent fractures 7.5% Vasculitis 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. |
symptoms | What are the symptoms of Split hand/foot malformation X-linked ? | What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. 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) Finger syndactyly - Short metacarpal - Short phalanx of finger - Split foot - Split hand - X-linked 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. |
inheritance | Is Peutz-Jeghers syndrome inherited ? | Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child. |
causes | What causes Polycystic Kidney Disease ? | A gene mutation, or defect, causes polycystic kidney disease. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the deoxyribonucleic acid (DNA) sequence that makes up a gene. In most cases of PKD, a person inherits the gene mutation, meaning a parent passes it on in his or her genes. In the remaining cases, the gene mutation develops spontaneously. In spontaneous cases, neither parent carries a copy of the mutated gene.
Researchers have found three different gene mutations associated with PKD. Two of the genes are associated with autosomal dominant PKD. The third gene is associated with autosomal recessive PKD. Gene mutations that cause PKD affect proteins that play a role in kidney development.
Genetic Disorders Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body. If a gene has a mutation, the protein made by that gene may not function properly, which sometimes creates a genetic disorder. Not all gene mutations cause a disorder. People inherit two copies of most genes; one copy from each parent. A genetic disorder occurs when one or both parents pass a mutated gene to a child at conception. A genetic disorder can also occur through a spontaneous gene mutation, meaning neither parent carries a copy of the mutated gene. Once a spontaneous gene mutation has occurred, a person can pass it to his or her children. Read more about genes and genetic conditions in the U.S. National Library of Medicines (NLMs) Genetics Home Reference. |
outlook | What is the outlook for Neurodegeneration with Brain Iron Accumulation ? | NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and spasticity can eventually limit the ability to walk, usually leading to use of a wheelchair by the midteens. Life expectancy is variable, although premature death does occur in NBIA. Premature death usually occurs due to secondary complications such as impaired swallowing or confinement to a bed or wheelchair, which can lead to poor nutrition or aspiration pneumonia. With improved medical care, however, a greater number of affected individuals reach adulthood. For those with atypical, late-onset NBIA, many are diagnosed as adults and live well into adulthood. |
inheritance | Is recombinant 8 syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder. Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. An inversion involves the breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Genetic material is typically not lost as a result of this inversion in chromosome 8, so people usually do not have any related health problems. However, genetic material can be lost or duplicated when inversions are being passed to the next generation. People with this chromosome 8 inversion are at of risk having a child with recombinant 8 syndrome. |
outlook | What is the outlook for Paroxysmal Choreoathetosis ? | Generally, paroxysmal choreoathetosis lessens with age, and many adults have a complete remission. Because drug therapy is so effective, the prognosis for the disorder is good. |
exams and tests | How to diagnose Mitochondrial neurogastrointestinal encephalopathy syndrome ? | How might mitochondrial neurogastrointestinal encephalopathy syndrome be diagnosed? The clinical diagnosis of mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is based on the presence of severe gastrointestinal dysmotility (when the muscles and nerves of the digestive system do not move food through the digestive tract efficiently), cachexia (wasting away of muscle and fat tissue), ptosis, external ophthalmoplegia (weakness in the muscles that control eye movement), sensorimotor neuropathy, asymptomatic leukoencephalopathy (observed on brain MRI), and a family history consistent with autosomal recessive inheritance. Direct evidence of MNGIE syndrome can be provided by one of the following: A blood test showing an increase in plasma thymidine concentration (greater than 3 mol/L) and an increase in plasma deoxyuridine concentration (greater than 5 mol/L). This is sufficient to make the diagnosis of MNGIE disease. Thymidine phosphorylase enzyme activity in leukocytes (white blood cells) less than 10% of the control mean. Genetic testing of TYMP, the gene for thymidine phosphorylase (the enzyme deficient in individuals with MNGIE syndrome), detects mutations in approximately all of affected individuals. |
causes | What causes Colpocephaly ? | What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases. |
symptoms | What are the symptoms of Hypocalcemia, autosomal dominant ? | What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal dominant. 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) Behavioral abnormality 90% EMG abnormality 90% Flexion contracture 90% Hypercalciuria 90% Hypocalcemia 90% Involuntary movements 90% Paresthesia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of the fingernails 50% Alopecia 50% Arrhythmia 50% Dry skin 50% Hyperphosphatemia 50% Hypotension 50% Nephrolithiasis 50% Congestive heart failure 7.5% Eczema 7.5% Increased intracranial pressure 7.5% Irregular hyperpigmentation 7.5% Optic atrophy 7.5% Reduced bone mineral density 7.5% Reduced consciousness/confusion 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. |
treatment | What are the treatments for Winchester syndrome ? | These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester 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 |
research | what research (or clinical trials) is being done for Skin Cancer ? | Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.
New ways to prevent skin cancer are being studied in clinical trials.
Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI Web site. Check NCI's list of cancer clinical trials for nonmelanoma skin cancer prevention trials and melanoma prevention trials that are now accepting patients. |
information | What is (are) Cataract ? | Yes. There are two types of cataract surgery, phacoemulsification and extracapsular surgery. Your doctor can explain the differences and help determine which is better for you. With phacoemulsification, or phaco, a small incision is made on the side of the cornea, the clear, dome-shaped surface that covers the front of the eye. Your doctor inserts a tiny probe into the eye. This device emits ultrasound waves that soften and break up the lens so that it can be removed by suction. Most cataract surgery today is done by phacoemulsification, also called "small incision cataract surgery." With extracapsular surgery, your doctor makes a longer incision on the side of the cornea and removes the cloudy core of the lens in one piece. The rest of the lens is removed by suction. |
susceptibility | Who is at risk for Parasites - Toxoplasmosis (Toxoplasma infection)? ? | Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii. In the United States it is estimated that 22.5% of the population 12 years and older have been infected with Toxoplasma. In various places throughout the world, it has been shown that up to 95% of some populations have been infected with Toxoplasma. Infection is often highest in areas of the world that have hot, humid climates and lower altitudes.
Toxoplasmosis is not passed from person-to-person, except in instances of mother-to-child (congenital) transmission and blood transfusion or organ transplantation. People typically become infected by three principal routes of transmission.
Foodborne transmission
The tissue form of the parasite (a microscopic cyst consisting of bradyzoites) can be transmitted to humans by food. People become infected by:
- Eating undercooked, contaminated meat (especially pork, lamb, and venison)
- Accidental ingestion of undercooked, contaminated meat after handling it and not washing hands thoroughly (Toxoplasma cannot be absorbed through intact skin)
- Eating food that was contaminated by knives, utensils, cutting boards, or other foods that had contact with raw, contaminated meat
Animal-to-human (zoonotic) transmission
Cats play an important role in the spread of toxoplasmosis. They become infected by eating infected rodents, birds, or other small animals. The parasite is then passed in the cat's feces in an oocyst form, which is microscopic.
Kittens and cats can shed millions of oocysts in their feces for as long as 3 weeks after infection. Mature cats are less likely to shed Toxoplasma if they have been previously infected. A Toxoplasma-infected cat that is shedding the parasite in its feces contaminates the litter box. If the cat is allowed outside, it can contaminate the soil or water in the environment as well.
People can accidentally swallow the oocyst form of the parasite. People can be infected by:
- Accidental ingestion of oocysts after cleaning a cat's litter box when the cat has shed Toxoplasma in its feces
- Accidental ingestion of oocysts after touching or ingesting anything that has come into contact with a cat's feces that contain Toxoplasma
- Accidental ingestion of oocysts in contaminated soil (e.g., not washing hands after gardening or eating unwashed fruits or vegetables from a garden)
- Drinking water contaminated with the Toxoplasma parasite
Mother-to-child (congenital) transmission
A woman who is newly infected with Toxoplasma during pregnancy can pass the infection to her unborn child (congenital infection). The woman may not have symptoms, but there can be severe consequences for the unborn child, such as diseases of the nervous system and eyes.
Rare instances of transmission
Organ transplant recipients can become infected by receiving an organ from a Toxoplasma-positive donor. Rarely, people can also become infected by receiving infected blood via transfusion. Laboratory workers who handle infected blood can also acquire infection through accidental inoculation. |
information | What is (are) congenital leptin deficiency ? | Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile). |
symptoms | What are the symptoms of Malonyl-CoA decarboxylase deficiency ? | What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase 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) Cognitive impairment 90% Abnormality of the cardiovascular system 50% Constipation 50% Hypoglycemia 50% Muscular hypotonia 50% Seizures 50% Pachygyria 5% Abdominal pain - Autosomal recessive inheritance - Chronic constipation - Diarrhea - Hypertrophic cardiomyopathy - Ketosis - Lactic acidosis - Metabolic acidosis - Short stature - 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. |
information | What is (are) Stuve-Wiedemann syndrome ? | Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Treatment is symptomatic and supportive. |
treatment | What are the treatments for Apraxia ? | Generally, treatment for individuals with apraxia includes physical, speech,or occupational therapy. If apraxia is a symptom of another disorder, the underlying disorder should be treated. |
stages | What are the stages of Chronic Myelogenous Leukemia ? | Key Points
- After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. - Chronic myelogenous leukemia has 3 phases. - Chronic phase - Accelerated phase - Blastic phase
After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread.
Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myelogenous leukemia (CML). Instead, the disease is classified by phase: chronic phase, accelerated phase, or blastic phase. It is important to know the phase in order to plan treatment. The information from tests and procedures done to detect (find) and diagnose chronic myelogenous leukemia is also used to plan treatment.
Chronic myelogenous leukemia has 3 phases.
As the amount of blast cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may result in infections, anemia, and easy bleeding, as well as bone pain and pain or a feeling of fullness below the ribs on the left side. The number of blast cells in the blood and bone marrow and the severity of signs or symptoms determine the phase of the disease. Chronic phase In chronic phase CML, fewer than 10% of the cells in the blood and bone marrow are blast cells. Accelerated phase In accelerated phase CML, 10% to 19% of the cells in the blood and bone marrow are blast cells. Blastic phase In blastic phase CML, 20% or more of the cells in the blood or bone marrow are blast cells. When tiredness, fever, and an enlarged spleen occur during the blastic phase, it is called blast crisis. |
treatment | What are the treatments for carbamoyl phosphate synthetase I deficiency ? | These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperammonemia, type I - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality 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 |
information | What is (are) Central core disease ? | Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures). Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat. RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations. |
causes | What causes Erythropoietic protoporphyria ? | What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene. |
causes | What causes Autoimmune autonomic ganglionopathy ? | What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness. |
information | What is (are) Stroke ? | Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. With timely treatment these cells can be saved. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital as quickly as possible are critical. |
treatment | What are the treatments for auriculo-condylar syndrome ? | These resources address the diagnosis or management of auriculo-condylar syndrome: - Genetic Testing Registry: Auriculocondylar syndrome 1 - Genetic Testing Registry: Auriculocondylar syndrome 2 - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears 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 |
symptoms | What are the symptoms of Nasodigitoacoustic syndrome ? | What are the signs and symptoms of Nasodigitoacoustic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasodigitoacoustic 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 thumb phalanx 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Broad forehead 90% Hypertelorism 90% Preaxial foot polydactyly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short distal phalanx of finger 90% Short hallux 90% Abnormality of the voice 50% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Exaggerated cupid's bow 50% Macrocephaly 50% Ptosis 50% Tented upper lip vermilion 50% Behavioral abnormality 7.5% Cognitive impairment 7.5% Short stature 7.5% Abnormality of the nail - Autosomal dominant inheritance - Broad distal phalanx of finger - Broad hallux - Broad thumb - Depressed nasal bridge - Enlarged epiphyses - Frontal bossing - High palate - Hoarse voice - Narrow palate - Prominent forehead - Pulmonic stenosis - Rounded epiphyses - Short 3rd metacarpal - Short phalanx of finger - Short toe - Thick upper lip vermilion - 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. |
prevention | How to prevent Tuberculosis (TB) ? | Infection Control in Health Care Settings
Tuberculosis (TB) transmission has been documented in health care settings where health care workers and patients come in contact with people who have TB disease.
People who work or receive care in health care settings are at higher risk for becoming infected with TB; therefore, it is necessary to have a TB infection control plan as part of a general infection control program designed to ensure the following:
- prompt detection of infectious patients,
- airborne precautions, and
- treatment of people who have suspected or confirmed TB disease.
In order to be effective, the primary emphasis of a TB infection control program should be on achieving these three goals.
In all health care settings, particularly those in which people are at high risk for exposure to TB, policies and procedures for TB control should be developed, reviewed periodically, and evaluated for effectiveness to determine the actions necessary to minimize the risk for transmission of TB.
The TB infection control program should be based on a three-level hierarchy of control measures and include:
- Administrative measures
- Environmental controls
- Use of respiratory protective equipment
The first and most important level of the hierarchy, administrative measures, impacts the largest number of people. It is intended primarily to reduce the risk of uninfected people who are exposed to people who have TB disease.
The second level of the hierarchy is the use of environmental controls to reduce the amount of TB in the air. The first two control levels of the hierarchy also minimize the number of areas in the health care setting where exposure to TB may occur.
The third level of the hierarchy is the use of respiratory protective equipment in situations that pose a high risk of exposure to TB. Use of respiratory protection equipment can further reduce the risk for exposure of health care workers.
More: Information about Infection Control in Health Care Settings
TB Prevention
Preventing Exposure to TB Disease While Traveling Abroad
Travelers should avoid close contact or prolonged time with known TB patients in crowded, enclosed environments (for example, clinics, hospitals, prisons, or homeless shelters).
Travelers who will be working in clinics, hospitals, or other health care settings where TB patients are likely to be encountered should consult infection control or occupational health experts. They should ask about administrative and environmental procedures for preventing exposure to TB. Once those procedures are implemented, additional measures could include using personal respiratory protective devices.
Travelers who anticipate possible prolonged exposure to people with TB (for example, those who expect to come in contact routinely with clinic, hospital, prison, or homeless shelter populations) should have a tuberculin skin test (TST) or interferon-gamma release assay (IGRA) test before leaving the United States. If the test reaction is negative, they should have a repeat test 8 to 10 weeks after returning to the United States. Additionally, annual testing may be recommended for those who anticipate repeated or prolonged exposure or an extended stay over a period of years. Because people with HIV infection are more likely to have an impaired response to both the TST and IGRA, travelers who are HIV positive should tell their physicians about their HIV infection status.
More: Tuberculosis Information for International Travelers
What to Do If You Have Been Exposed to TB
If you think you have been exposed to someone with TB disease, contact your health care provider or local health department to see if you should be tested for TB. Be sure to tell the doctor or nurse when you spent time with someone who has TB disease.
More: What to Do If You Have Been Exposed to TB
Preventing Latent TB Infection from Progressing to TB Disease
Many people who have latent TB infection never develop TB disease. But some people who have latent TB infection are more likely to develop TB disease than others. Those at high risk for developing TB disease include:
- People with HIV infection
- People who became infected with TB bacteria in the last 2 years
- Babies and young children
- People who inject illegal drugs
- People who are sick with other diseases that weaken the immune system
- Elderly people
- People who were not treated correctly for TB in the past
If you have latent TB infection and you are in one of these high-risk groups, you should take medicine to keep from developing TB disease. There are several treatment options for latent TB infection. You and your health care provider must decide which treatment is best for you. If you take your medicine as instructed, it can keep you from developing TB disease. Because there are less bacteria, treatment for latent TB infection is much easier than treatment for TB disease. A person with TB disease has a large amount of TB bacteria in the body. Several drugs are needed to treat TB disease. |
symptoms | What are the symptoms of Dystrophic epidermolysis bullosa ? | What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. 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) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Cheilitis 90% Abnormality of dental enamel 50% Abnormality of the hand 50% Abnormality of the larynx 50% Anonychia 50% Camptodactyly of toe 50% Carious teeth 50% Constipation 50% Feeding difficulties in infancy 50% Finger syndactyly 50% Furrowed tongue 50% Gangrene 50% Hypopigmented skin patches 50% Skin ulcer 50% Toe syndactyly 50% Tracheoesophageal fistula 50% Abnormality of the preputium 7.5% Anemia 7.5% Atypical scarring of skin 7.5% Blepharitis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Corneal erosion 7.5% Eczema 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Immunologic hypersensitivity 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Nephrotic syndrome 7.5% Otitis media 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Ureteral stenosis 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. |
treatment | What are the treatments for transthyretin amyloidosis ? | These resources address the diagnosis or management of transthyretin amyloidosis: - Boston University: Amyloid Treatment & Research Program - Gene Review: Gene Review: Familial Transthyretin Amyloidosis - Genetic Testing Registry: Amyloidogenic transthyretin amyloidosis - MedlinePlus Encyclopedia: Autonomic neuropathy 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 |
information | What is (are) isolated ectopia lentis ? | Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time. Vision problems are common in isolated ectopia lentis. Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the lens or a structure that covers the front of the eye (the cornea), which causes blurred vision (astigmatism). They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than other adults. In a small number of people with isolated ectopia lentis, tearing of the back lining of the eye (retinal detachment) occurs, which can lead to further vision problems and possible blindness. In individuals with isolated ectopia lentis, each eye can be affected differently. In addition, the eye problems vary among affected individuals, even those within the same family. Ectopia lentis is classified as isolated when it occurs alone without signs and symptoms affecting other body systems. Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome. |
frequency | how common is infection with y. enterocolitica for Yersinia ? | Y. enterocolitica is a relatively infrequent cause of diarrhea and abdominal pain. Based on data from the Foodborne Diseases Active Surveillance Network (FoodNet), which measures the burden and sources of specific diseases over time, approximately one culture-confirmed Y. enterocolitica infection per 100,000 persons occurs each year. Children are infected more often than adults, and the infection is more common in the winter. |
information | What is (are) prion disease ? | Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years. |
information | What is (are) Partington syndrome ? | Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. |
causes | What causes Alzheimer's Disease ? | There are two types of Alzheimers diseaseearly-onset and late-onset. Early-onset Alzheimers is a rare form of the disease that occurs in people age 30 to 60. It occurs in less than 5 percent of all people with Alzheimers. Almost all people with Alzheimers disease have late-onset Alzheimer's, which usually develops after age 60. Causes Not Fully Understood Scientists do not yet fully understand what causes Alzheimer's disease in most people. In early-onset Alzheimers, a genetic mutation is usually the cause. Late-onset Alzheimers arises from a complex series of brain changes that occur over decades. The causes probably include a mix of genetic, environmental, and lifestyle factors. These factors affect each person differently. Research shows that Alzheimers disease causes changes in the brain years and even decades before the first symptoms appear, so even people who seem free of the disease today may be at risk. Scientists are developing sophisticated tests to help identify who is most likely to develop symptoms of Alzheimers. Ultimately, they hope to prevent or delay dementia in these high-risk individuals. Risk Factors Some risk factors for Alzheimers, like age and genetics, cannot be controlled. Other factors that may play a role in the development of the diseasesuch as how much a person exercises or socializescan be changed. Lifestyle factors, such as diet and physical exercise, and long-term health conditions, like high blood pressure and diabetes, might also play a role in the risk of developing Alzheimers disease. For more information, see the chapter entitled Prevention. Older AgeThe Biggest Risk Factor Increasing age is the most important known risk factor for Alzheimer's disease. The number of people with the disease doubles every 5 years beyond age 65. Nearly half of people age 85 and older may have Alzheimers. These facts are significant because the number of older adults is growing. Genetics Genetics appears to play a part in both early- and late-onset Alzheimers disease. In early-onset Alzheimers, most cases are caused by specific genetic mutations permanent changes in genes that can be passed on from a parent to a child. This results in early-onset familial Alzheimers disease, or FAD. Most people with Alzheimers disease have late-onset Alzheimer's, in which symptoms appear in a persons mid-60s. No obvious family pattern is seen in most of these cases, but certain genetic factors appear to increase a persons risk. Many studies have linked the apolipoprotein E gene to late-onset Alzheimers. One form of this gene, APOE 4, increases a persons risk of getting the disease. But many people who get Alzheimers do not have the APOE 4 gene, and some people with the gene never get Alzheimers. Scientists have identified a number of other genes in addition to APOE 4 that may increase a persons risk for late-onset Alzheimers. Knowing about these genes can help researchers more effectively test possible treatments and prevention strategies in people who are at risk of developing Alzheimers -- ideally, before symptoms appear. Learn more about the genetics of Alzheimers disease. |
treatment | What are the treatments for Multi-Infarct Dementia ? | There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. The best treatment for MID is prevention early in life eating a healthy diet, exercising, not smoking, moderately using alcohol, and maintaining a healthy weight. |
information | What is (are) Guttate psoriasis ? | Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy. |
causes | What causes Benign schwannoma ? | What causes schwannomas? The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. For example, neurofibromatosis type 2 is caused by mutations in the NF2 gene and schwannomatosis is caused by mutations in the SMARCB1 gene and the LZTR1 gene. |
symptoms | What are the symptoms of Metaphyseal acroscyphodysplasia ? | What are the signs and symptoms of Metaphyseal acroscyphodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal acroscyphodysplasia. 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 femur 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Accelerated skeletal maturation 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Genu varum 90% Micromelia 90% Short stature 90% Short toe 90% Cognitive impairment 50% Depressed nasal ridge 50% Epicanthus 50% Frontal bossing 50% Hypertelorism 50% Telecanthus 50% Malar flattening 7.5% Scoliosis 7.5% Anteverted nares - Autosomal recessive inheritance - Biconcave vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Craniosynostosis - Flat face - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular phalanges - Metaphyseal cupping - Metaphyseal widening - Narrow pelvis bone - Platyspondyly - Prominent forehead - Severe short stature - Short finger - Short humerus - Short metacarpal - Short palm - Short phalanx of finger - Thickened calvaria - Tibial bowing - Wide nasal bridge - 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. |
inheritance | Is Troyer 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. |
frequency | How many people are affected by glycine encephalopathy ? | The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada. |
inheritance | Is hereditary sensory and autonomic neuropathy type II 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. |
inheritance | Is erythromelalgia inherited ? | Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
treatment | What are the treatments for Sheldon-Hall syndrome ? | These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center 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 |
information | What is (are) Congenital primary aphakia ? | Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye. |
information | What is (are) Retinal vasculopathy with cerebral leukodystrophy ? | Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause. RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR). |
symptoms | What are the symptoms of Idiopathic basal ganglia calcification childhood-onset ? | What are the signs and symptoms of Idiopathic basal ganglia calcification childhood-onset? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic basal ganglia calcification childhood-onset. 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 extrapyramidal motor function - Autosomal dominant inheritance - Autosomal recessive inheritance - Basal ganglia calcification - Calcification of the small brain vessels - Decreased body weight - Dense calcifications in the cerebellar dentate nucleus - Dolichocephaly - Dysarthria - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - Limb joint contracture - Microcephaly - Seizures - Short stature - Spasticity - Tetraplegia - 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. |
information | What is (are) pontocerebellar hypoplasia ? | Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood. Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy. Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions. |
stages | What are the stages of Adult Central Nervous System Tumors ? | Key Points
- There is no standard staging system for adult brain and spinal cord tumors. - Imaging tests may be repeated after surgery to help plan more treatment.
There is no standard staging system for adult brain and spinal cord tumors.
The extent or spread of cancer is usually described as stages. There is no standard staging system for brain and spinal cord tumors. Brain tumors that begin in the brain may spread to other parts of the brain and spinal cord, but they rarely spread to other parts of the body. Treatment of primary brain and spinal cord tumors is based on the following: - The type of cell in which the tumor began. - Where the tumor formed in the brain or spinal cord. - The amount of cancer left after surgery. - The grade of the tumor. Treatment of tumors that have spread to the brain from other parts of the body is based on the number of tumors in the brain.
Imaging tests may be repeated after surgery to help plan more treatment.
Some of the tests and procedures used to diagnose a brain or spinal cord tumor may be repeated after treatment to find out how much tumor is left. |
exams and tests | How to diagnose Asbestos-Related Lung Diseases ? | Your doctor will diagnose an asbestos-related lung disease based on your past exposure to asbestos, your symptoms, a physical exam, and test results.
Specialists Involved
Your primary care doctor, such as a family doctor or internist, may provide ongoing care if you have an asbestos-related lung disease. Other specialists also may be involved in your care, including a:
Pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases.
Radiologist. This is a doctor who is specially trained to supervise x-ray tests and look at x-ray pictures.
Surgeon or oncologist. An oncologist is a doctor who specializes in diagnosing and treating cancer. The surgeon or oncologist may take a tissue sample from your lungs to study under a microscope.
Pathologist. A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. A pathologist may study your tissue sample.
Exposure to Asbestos
Your doctor will want to know about your history of asbestos exposure. He or she may ask about your work history and your spouse's or other family members work histories.
Your doctor also may ask about your location and surroundings. For example, he or she may ask about areas of the country where you've lived.
If you know you were exposed to asbestos, your doctor may ask questions to find out:
How much asbestos you were exposed to. For example, were you surrounded by visible asbestos dust?
How long you were exposed to asbestos and how often during that time you were in direct contact with it.
Symptoms
Your doctor may ask whether you have any symptoms, such as shortness of breath or coughing. The symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs.
Your doctor also may ask whether you smoke. Smoking, along with asbestos exposure, raises your risk for lung cancer.
Physical Exam
Your doctor will listen to your breathing with a stethoscope to find out whether your lungs are making any strange sounds.
If you have a pleural effusion with a lot of fluid buildup, your doctor might hear a dull sound when he or she taps on your chest. Or, he or she might have trouble hearing any breathing sounds. If you have asbestosis, your doctor may hear a crackling sound when you breathe in.
Your doctor will check your legs for swelling, which may be a sign of lung-related problems. He or she also will check your fingers and toes for clubbing.
Clubbing is the widening and rounding of the fingertips and toes. Clubbing most often is linked to heart and lung diseases that cause lower-than-normal blood oxygen levels.
Chest X Ray
A chest x ray is the most common test for detecting asbestos-related lung diseases. This painless test creates pictures of the structures inside your chest, such as the lungs.
A chest x ray cant detect asbestos fibers in the lungs. However, it can show asbestos-related diseases, such as pleural plaque and pleural effusion. Pleural effusion also can be a sign of a more severe disease, such as mesothelioma.
A chest x ray also can show asbestosis. Often the lung tissue will appear very white on the x-ray pictures. The size, shape, location, and degree of whiteness can help your doctor figure out how much lung damage you have. Severe asbestosis may affect the whole lung and have a honeycomb look on the x-ray pictures.
If you have lung cancer, a chest x ray may show masses or abnormal fluid.
If you have mesothelioma, a chest x ray will show thickening of the pleura. The pleura is the tissue around the lungs and diaphragm (the muscle below your lungs). The chest xray also will usually show signs of pleural effusion in people who have mesothelioma.
Other Diagnostic Tests
To help confirm a chest x-ray finding, or to find out how much lung damage you have, you may have more tests.
Chest Computed Tomography Scan
A chest computed tomography (to-MOG-ra-fee) scan, or chest CT scan, is a painless test that creates precise pictures of the structures inside your chest, such as your lungs. A CT scan is a type of x ray, but its pictures show more detail than standard chest x-ray pictures.
A chest CT scan may be very helpful for finding asbestosis in its earliest stages, before a standard chest x ray can detect it.
Lung Function Tests
Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.
These tests can show whether your lung function is impaired. They also can help your doctor track your disease over time.
Biopsy
The only way to confirm a diagnosis of lung cancer or mesothelioma is for a pathologist to check samples of your lung cells or tissues. A pathologist is a doctor who identifies diseases by studying cells and tissues under a microscope.
Doctors have many ways to collect tissue samples. One way is through bronchoscopy (bron-KOS-ko-pee). For this procedure, your doctor will pass a thin, flexible tube through your nose (or sometimes your mouth), down your throat, and into your airways. He or she will then take a sample of tissue from your lungs.
If your doctor thinks you have mesothelioma, you may have a thoracoscopy (thor-ah-KOS-ko-pee). For this procedure, you'll be given medicine so you don't feel any pain.
Your doctor will make a small cut through your chest wall. He or she will put a thin tube with a light on it into your chest between two ribs. This allows your doctor to see inside your chest and get tissue samples. |
symptoms | What are the symptoms of Febrile infection-related epilepsy syndrome ? | What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy 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) Developmental regression 90% EEG abnormality 90% Reduced consciousness/confusion 90% Seizures 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Myalgia 50% Sinusitis 50% Autoimmunity 7.5% Sudden cardiac death 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. |
inheritance | Is cutis laxa inherited ? | Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance. When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, cases of cutis laxa resulting from FBLN5 mutations can also have an autosomal dominant pattern of inheritance. Researchers have described at least two forms of autosomal recessive cutis laxa. Type I results from mutations in the EFEMP2 or FBLN5 gene, while type II is caused by mutations in the ATP6V02 gene. Autosomal recessive inheritance 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. Occipital horn syndrome has an X-linked recessive pattern of inheritance. It results from mutations in the ATP7A gene, which is located on the X chromosome. The X chromosome is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
causes | What causes Thanatophoric dysplasia ? | What causes thanatophoric dysplasia? Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe problems with bone growth that are seen in thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder. |
susceptibility | Who is at risk for What I need to know about My Child's Urinary Tract Infection? ? | Any child can get a UTI, though girls get UTIs more often than boys.
Children with a condition called vesicoureteral reflux (VUR) are at higher risk for UTIs. VUR causes urine to reflux at the point where one or both ureters attach to the bladder. When urine stays in the urinary tract, bacteria have a chance to grow and spread. Infants and young children who get a UTI often have VUR.
Boys younger than 6 months who are not circumcised are at greater risk for a UTI than circumcised boys the same age. Boys who are circumcised have had the foreskin, which is the skin that covers the tip of the penis, removed. |
treatment | What are the treatments for CADASIL ? | How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit. |
treatment | What are the treatments for Gamma heavy chain disease ? | How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using "gamma heavy chain disease [ti] AND treatment" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search. |
information | What is (are) Hypothalamic dysfunction ? | Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. |
treatment | What are the treatments for Brody myopathy ? | These resources address the diagnosis or management of Brody myopathy: - Genetic Testing Registry: Brody myopathy - New York Presbyterian Hospital: Myopathy 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 |
symptoms | What are the symptoms of Familial pemphigus vulgaris ? | What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. 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) Acantholysis 90% Atypical scarring of skin 90% Feeding difficulties in infancy 90% Recurrent cutaneous abscess formation 90% Urticaria 90% Weight loss 90% Autoimmune antibody positivity - Autosomal dominant inheritance - Oral mucosal blisters - 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. |
information | What is (are) Bursitis ? | A bursa is a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin. Bursitis occurs when a bursa becomes inflamed. People get bursitis by overusing a joint. It can also be caused by an injury. It usually occurs at the knee or elbow. Kneeling or leaning your elbows on a hard surface for a long time can make bursitis start. Doing the same kinds of movements every day or putting stress on joints increases your risk. Symptoms of bursitis include pain and swelling. Your doctor will diagnose bursitis with a physical exam and tests such as x-rays and MRIs. He or she may also take fluid from the swollen area to be sure the problem isn't an infection. Treatment of bursitis includes rest, pain medicines, or ice. If there is no improvement, your doctor may inject a drug into the area around the swollen bursa. If the joint still does not improve after 6 to 12 months, you may need surgery to repair damage and relieve pressure on the bursa. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases |
information | What is (are) Melkersson-Rosenthal Syndrome ? | Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis. |
symptoms | What are the symptoms of Antiphospholipid Antibody Syndrome ? | The signs and symptoms of antiphospholipid antibody syndrome (APS) are related to abnormal blood clotting. The outcome of a blood clot depends on its size and location.
Blood clots can form in, or travel to, the arteries or veins in the brain, heart, kidneys, lungs, and limbs. Clots can reduce or block blood flow. This can damage the body's organs and may cause death.
Major Signs and Symptoms
Major signs and symptoms of blood clots include:
Chest pain and shortness of breath
Pain, redness, warmth, and swelling in the limbs
Ongoing headaches
Speech changes
Upper body discomfort in the arms, back, neck, and jaw
Nausea (feeling sick to your stomach)
Blood clots can lead to stroke, heart attack, kidney damage, deep vein thrombosis, and pulmonary embolism.
Pregnant women who have APS can have successful pregnancies. However, they're at higher risk for miscarriages, stillbirths, and other pregnancy-related problems, such as preeclampsia (pre-e-KLAMP-se-ah).
Preeclampsia is high blood pressure that occurs during pregnancy. This condition may progress to eclampsia. Eclampsia is a serious condition that causes seizures in pregnant women.
Some people who have APS may develop thrombocytopenia. This is a condition in which your blood has a lower than normal number of blood cell fragments called platelets.
Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside the body (internal bleeding) or underneath or from the skin (external bleeding).
Other Signs and Symptoms
Other signs and symptoms of APS include chronic (ongoing) headaches, memory loss, and heart valve problems. Some people who have APS also get a lacy-looking red rash on their wrists and knees. |
inheritance | Is Tumor necrosis factor receptor-associated periodic syndrome inherited ? | How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance. |
frequency | How many people are affected by myosin storage myopathy ? | Myosin storage myopathy is a rare condition. Its prevalence is unknown. |
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