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5,668 | What is (are) ADNP syndrome ? | ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, ... |
11,133 | What is the outlook for Zellweger Syndrome ? | The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure. |
149 | What are the treatments for globozoospermia ? | These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePlus Encyclopedia: Semen Analysis - MedlinePlus Health Topic: As... |
6,683 | What is (are) Hemochromatosis ? | Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and ... |
7,706 | What are the symptoms of C1q deficiency ? | What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q 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 l... |
9,622 | Is Chromosome 3p- syndrome inherited ? | Is chromosome 3p- syndrome inherited? In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome... |
13,553 | What is (are) Hepatitis A ? | Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis A, is caused by the hepatitis A virus (HAV). The disease spreads through contact with an infected person's stool. You can get it from -... |
6,598 | What are the symptoms of Medulloblastoma ? | What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. 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... |
4,814 | What are the treatments for malignant migrating partial seizures of infancy ? | These resources address the diagnosis or management of malignant migrating partial seizures of infancy: - Genetic Testing Registry: Early infantile epileptic encephalopathy 14 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer information about the diagnosis and management of various health cond... |
15,304 | What to do for Primary Hyperparathyroidism ? | Eating, diet, and nutrition have not been shown to play a role in causing or preventing primary hyperparathyroidism.
Vitamin D. Experts suggest correcting vitamin D deficiency in people with primary hyperparathyroidism to achieve a serum level of 25-hydroxy-vitamin D greater than 20 nanograms per decil... |
14,863 | What are the treatments for Cataract ? | The symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. If these measures do not help, surgery is the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. |
4,003 | Is congenital diaphragmatic hernia inherited ? | Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condi... |
8,164 | What are the treatments for Patulous Eustachian Tube ? | How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They ... |
14,566 | What causes Urinary Tract Infections ? | Most urinary tract infections, or UTIs, are caused by bacteria that enter the urethra and then the bladder. A type of bacteria that normally lives in the bowel (called E. coli) causes most UTIs. UTIs can also be caused by fungus (another type of germ). Who Gets UTIs? Although everyone has some risk for UTIs, some peopl... |
4,108 | Is maple syrup urine disease 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. |
14,811 | Who is at risk for Heart Failure? ? | Preventing Heart Failure There are a number of things you can do to reduce the risk for coronary artery disease and heart failure. These things include - keeping your cholesterol levels healthy - keeping your blood pressure at a normal level - managing diabetes - maintaining a healthy weight - quitting smoking -... |
10,949 | What is the outlook for Muscular Dystrophy ? | The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others li... |
11,755 | What is (are) Myopathy ? | The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). My... |
14,105 | Do you have information about Lice | Summary : Lice are parasitic insects that can be found on people's heads and bodies. They survive by feeding on human blood. Lice found on each area of the body are different from each other. The three types of lice that live on humans are head lice, body lice (also called clothes lice), and pubic lice ("crabs"). S... |
15,777 | How many people are affected by Cyclic Vomiting Syndrome ? | Cyclic vomiting syndrome is more common in children than adults, although reports of the syndrome in adults have increased in recent years.1 Usually, children are about 5 years old when diagnosed with cyclic vomiting syndrome, which occurs in every three out of 100,000 children.2 |
11,584 | What are the treatments for Friedreich's Ataxia ? | There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot defor... |
13,272 | What is (are) Eyelid Disorders ? | Your eyelids help protect your eyes. When you blink, your eyelids spread moisture over your eyes. Blinking also helps move dirt or other particles off the surface of the eye. You close your eyelids when you see something coming towards your eyes. This can help protect against injuries. Like most other parts of your ... |
2,832 | What are the genetic changes related to neurofibromatosis type 1 ? | Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, ... |
1,604 | What are the treatments for isovaleric acidemia ? | These resources address the diagnosis or management of isovaleric acidemia: - Baby's First Test - Genetic Testing Registry: Isovaleryl-CoA dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... |
13,454 | What is (are) Stress ? | Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress: - Routine stress related to the pressures of work, family, and other d... |
10,497 | Is Currarino triad inherited ? | How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In ... |
9,020 | What are the symptoms of Idiopathic thrombocytopenic purpura ? | What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
3,648 | Is Costeff 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. |
6,395 | What is (are) Exogenous ochronosis ? | Exogenous ochronosis refers to the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due to exposure to various substances. It has been reported most commonly with topical application of hydroquinones to the skin. The discoloration may... |
15,693 | What is (are) Inguinal Hernia ? | The inguinal canal is a passage through the lower abdominal wall. People have two inguinal canalsone on each side of the lower abdomen. In males, the spermatic cords pass through the inguinal canals and connect to the testicles in the scrotumthe sac around the testicles. The spermatic cords contain blood vessels, nerve... |
9,555 | What causes Rotor syndrome ? | What causes Rotor syndrome? Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be ... |
15,543 | What are the symptoms of Hashimoto's Disease ? | Many people with Hashimotos disease have no symptoms at first. As the disease slowly progresses, the thyroid usually enlarges and may cause the front of the neck to look swollen. The enlarged thyroid, called a goiter, may create a feeling of fullness in the throat, though it is usually not painful. After many years, or... |
3,267 | What are the genetic changes related to distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction). It is unclear how mutations in the TPM2 and MYBPC1 genes ... |
12,134 | How to diagnose Rectal Cancer ? | Tests that examine the rectum and colon are used to detect (find) and diagnose rectal cancer. Tests used to diagnose rectal cancer include the following: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else ... |
12,050 | What is (are) Melanoma ? | Key Points
- Melanoma is a disease in which malignant (cancer) cells form in melanocytes (cells that color the skin). - There are different types of cancer that start in the skin. - Melanoma can occur anywhere on the skin. - Unusual moles, exposure to sunlight, and health history can affec... |
1,469 | What are the treatments for hereditary sensory and autonomic neuropathy type II ? | These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIA - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIB These resou... |
8,622 | What is (are) Koolen de Vries syndrome ? | Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizur... |
5,744 | What are the treatments for Iridocorneal endothelial syndrome ? | How might iridocorneal endothelial (ICE) syndrome be treated? It is not possible to halt the progression of ICE syndrome. Treatment is usually focused on managing the glaucoma associated with the disease, either through medication or possible surgery, to help reduce pressure in the eye. Medication and corneal transplan... |
13,113 | How to diagnose Diabetic Heart Disease ? | Your doctor will diagnose diabetic heart disease (DHD) based on your signs and symptoms, medical and family histories, a physical exam, and the results from tests and procedures.
Doctors and researchers are still trying to find out whether routine testing for DHD will benefit people who have diabetes b... |
12,458 | What is (are) Childhood Acute Lymphoblastic Leukemia ? | Key Points
- Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Past treatment for cancer and certain genetic cond... |
10,080 | What are the symptoms of Spinocerebellar ataxia 10 ? | What are the signs and symptoms of Spinocerebellar ataxia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 10. 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 M... |
11,732 | What are the treatments for Transient Ischemic Attack ? | Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy... |
9,126 | What is (are) Kienbock's disease ? | Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma... |
9,007 | What is (are) Dentinogenesis imperfecta ? | Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of... |
2,341 | How many people are affected by mitochondrial complex III deficiency ? | The prevalence of mitochondrial complex III deficiency is unknown, although the condition is thought to be rare. |
1,427 | What are the genetic changes related to Waardenburg syndrome ? | Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye ... |
12,620 | What are the treatments for Chronic Lymphocytic Leukemia ? | Key Points
- There are different types of treatment for patients with chronic lymphocytic leukemia. - Five types of standard treatment are used: - Watchful waiting - Radiation therapy - Chemotherapy - Surgery - Targeted therapy - New types of treatment are being... |
10,310 | What are the symptoms of Anonychia congenita ? | What are the signs and symptoms of Anonychia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia congenita. 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 Dicti... |
742 | What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essen... |
12,227 | What is (are) Vulvar Cancer ? | Key Points
- Vulvar cancer is a rare disease in which malignant (cancer) cells form in the tissues of the vulva. - Having vulvar intraepithelial neoplasia or HPV infection can affect the risk of vulvar cancer. - Signs of vulvar cancer include bleeding or itching. - Tests that examine the vu... |
1,791 | How many people are affected by von Hippel-Lindau syndrome ? | The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals. |
15,325 | What is (are) Anemia of Inflammation and Chronic Disease ? | Anemia of inflammation and chronic disease is a type of anemia that commonly occurs with chronic, or long term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause AI/ACD.
AI/ACD is easily confused with iron-deficiency ane... |
8,150 | What is (are) Reticulohistiocytoma ? | Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocyte... |
3,983 | Is Lenz microphthalmia syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which 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 t... |
9,981 | What are the symptoms of Cervical hypertrichosis peripheral neuropathy ? | What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this ... |
12,515 | What are the symptoms of Childhood Liver Cancer ? | Signs and symptoms of childhood liver cancer include a lump or pain in the abdomen. Signs and symptoms are more common after the tumor gets big. Other conditions can cause the same signs and symptoms. Check with your childs doctor if your child has any of the following: - A lump in the abdomen that may be painf... |
15,017 | What is (are) Parasites - Toxoplasmosis (Toxoplasma infection) ? | A single-celled parasite called Toxoplasma gondii causes a disease known as toxoplasmosis. While the parasite is found throughout the world, more than 60 million people in the United States may be infected with the Toxoplasma parasite. Of those who are infected, very few have symptoms because a healthy person’s immune ... |
10,280 | What is (are) Prader-Willi syndrome ? | Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms of... |
14,496 | what research (or clinical trials) is being done for Rheumatoid Arthritis ? | Scientists are making rapid progress in understanding the complexities of rheumatoid arthritis. They are learning more about how and why it develops and why some people have more severe symptoms than others. Research efforts are focused on developing drugs that can reduce inflammation and slow or stop the disease with ... |
5,039 | What are the treatments for congenital fibrosis of the extraocular muscles ? | These resources address the diagnosis or management of congenital fibrosis of the extraocular muscles: - Gene Review: Gene Review: Congenital Fibrosis of the Extraocular Muscles - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 1 - Genetic Testing Registry: Fibrosis of extraocular muscles, con... |
1,925 | What is (are) dopa-responsive dystonia ? | Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained u... |
7,456 | What are the symptoms of Tricho-dento-osseous syndrome 1 ? | What are the signs and symptoms of Tricho-dento-osseous syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
7,132 | How to diagnose Microhydranencephaly ? | How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and... |
15,139 | How to diagnose Parasites - Paragonimiasis (also known as Paragonimus Infection) ? | The infection is usually diagnosed by identification of Paragonimus eggs in sputum. The eggs are sometimes found in stool samples (coughed-up eggs are swallowed). A tissue biopsy is sometimes performed to look for eggs in a tissue specimen.
Specific and sensitive antibody tests based on P. westermani antigens are ... |
2,278 | 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.... |
9,933 | What is (are) Potocki-Lupski syndrome ? | Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of ... |
10,780 | What is (are) Hypolipoproteinemia ? | Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associate... |
16,104 | Who is at risk for Pyelonephritis: Kidney Infection? ? | People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tra... |
1,371 | How many people are affected by pseudocholinesterase deficiency ? | Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives. |
14,206 | What are the symptoms of Age-related Macular Degeneration ? | The most common symptom of dry AMD is slightly blurred vision. You may have difficulty recognizing faces. You may need more light for reading and other tasks. Dry AMD generally affects both eyes, but vision can be lost in one eye while the other eye seems unaffected. One of the most common early signs of dry AMD is dru... |
9,832 | What are the symptoms of Pituitary hormone deficiency, combined 4 ? | What are the signs and symptoms of Pituitary hormone deficiency, combined 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 4. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
1,182 | What are the genetic changes related to galactosialidosis ? | Mutations in the CTSA gene cause all forms of galactosialidosis. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works ... |
4,325 | What is (are) congenital dyserythropoietic anemia ? | Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the ... |
14,558 | What are the treatments for Psoriasis ? | There are many types of treatments. Many are medicines and other treatments your doctor will have to prescribe. But there are other types of treatments you can buy without a prescription or try on your own. Some treatments for psoriasis are applied to the directly to the skin. Some use light to treat skin lesions. Othe... |
1,798 | Is hereditary diffuse gastric cancer inherited ? | HDGC is inherited in an autosomal dominant pattern, which means one copy of the altered CDH1 gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has one parent with the condition. |
4,105 | What is (are) maple syrup urine disease ? | Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and dev... |
903 | Is achondrogenesis inherited ? | Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance, which means both copies of the TRIP11 or SLC26A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and... |
10,054 | What is (are) Glucose transporter type 1 deficiency syndrome ? | Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microc... |
11,939 | What is the outlook for Endometrial Cancer ? | Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the endometrium only, involves the uterus wall, or has spread to other places in the body). - How the canc... |
7,460 | What is (are) Fanconi Bickel syndrome ? | Fanconi Bickel syndrome (FBS) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism. Signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (... |
5,717 | What are the treatments for Oculopharyngeal muscular dystrophy ? | How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surger... |
13,234 | Do you have information about Sexual Problems in Men | Summary : Many men have sexual problems. They become more common as men age. Problems can include - Erectile dysfunction - Reduced or lost interest in sex - Problems with ejaculation - Low testosterone Stress, illness, medicines, or emotional problems may also be factors. Occasional problems with s... |
1,878 | Is Alzheimer disease inherited ? | The early-onset form of Alzheimer disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. The inheritance pattern of late-onset Alzheimer disea... |
2,999 | What are the treatments for multicentric osteolysis, nodulosis, and arthropathy ? | These resources address the diagnosis or management of MONA: - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilita... |
3,371 | How many people are affected by biotinidase deficiency ? | Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns |
7,853 | What is (are) Desmoplastic small round cell tumor ? | Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. The most common symptoms include abdominal pain, ab... |
13,428 | What is (are) Temporomandibular Joint Dysfunction ? | The temporomandibular joint (TMJ) connects your jaw to the side of your head. When it works well, it enables you to talk, chew, and yawn. For people with TMJ dysfunction, problems with the joint and muscles around it may cause - Pain that travels through the face, jaw, or neck - Stiff jaw muscles - Limi... |
7,667 | What causes Celiac artery compression syndrome ? | What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous ba... |
10,816 | What are the treatments for Mixed connective tissue disease ? | How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation an... |
280 | What is (are) trisomy 13 ? | Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fi... |
11,568 | What are the treatments for Brain and Spinal Tumors ? | The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the tumor-related swelling inside the CNS. |
11,217 | What is the outlook for Developmental Dyspraxia ? | Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy. |
10,350 | What is (are) Charcot-Marie-Tooth disease type 2B ? | Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers... |
8,011 | What are the symptoms of Deafness oligodontia syndrome ? | What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia 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 Medli... |
12,845 | What causes Pleurisy and Other Pleural Disorders ? | Pleurisy
Many conditions can cause pleurisy. Viral infections are likely the most common cause. Other causes of pleurisy include:
Bacterial infections, such as pneumonia (nu-MO-ne-ah) and tuberculosis, and infections from fungi or parasites
Pulmonary embolism, a blood ... |
4,185 | What is (are) X-linked congenital stationary night blindness ? | X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (... |
13,961 | What is (are) Scoliosis ? | Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulde... |
13,948 | Do you have information about Health Insurance | Summary : Health insurance helps protect you from high medical care costs. It is a contract between you and your insurance company. You buy a plan or policy, and the company agrees to pay part of your expenses when you need medical care. Many people in the United States get a health insurance policy through their em... |
13,131 | What are the symptoms of Disseminated Intravascular Coagulation ? | Signs and symptoms of disseminated intravascular coagulation (DIC) depend on its cause and whether the condition is acute or chronic.
Acute DIC develops quickly (over hours or days) and is very serious. Chronic DIC develops more slowly (over weeks or months). It lasts longer and usually isn't recognize... |
7,110 | What are the symptoms of Metachromatic leukodystrophy ? | What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
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