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What are the treatments for multiminicore disease ? | These resources address the diagnosis or management of multiminicore disease: - Gene Review: Gene Review: Multiminicore Disease - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia - Genetic Testing Registry: Minicore myopathy, antenatal onset, with arthrogryposis - Genetic Testing Registry: ... | [
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Do you have information about Radiation Emergencies | Summary : Radiation is a type of energy. People are exposed to small amounts of radiation every day from sources such as sunlight. A radiation emergency would involve larger amounts of radiation and could be caused by - Dirty bombs - a mix of explosives with radioactive powder - Fallout from a nuclear bomb ... | [
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Is Stormorken syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history... | [
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What are the treatments for Palmoplantar keratoderma ? | How might palmoplantar keratoderma be treated? Treatment of both hereditary and nonhereditary palmoplantar keratodermas is difficult. Treatment usually only results in short-term improvement and often has adverse side effects. The goal of treatment is usually to soften the thickened skin and makes it less noticeable. T... | [
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What is (are) Charcot-Marie-Tooth disease type 4 ? | Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic gr... | [
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What are the treatments for Foot Drop ? | Treatment depends on the specific cause of foot drop. The most common treatment is to support the foot with light-weight leg braces and shoe inserts, called ankle-foot orthotics. Exercise therapy to strengthen the muscles and maintain joint motion also helps to improve gait. Devices that electrically stimulate the pero... | [
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What is (are) Lip and Oral Cavity Cancer ? | Key Points
- Lip and oral cavity cancer is a disease in which malignant (cancer) cells form in the lips or mouth. - Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. - Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. - Tests ... | [
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What are the treatments for Autoimmune hepatitis ? | How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. ... | [
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What causes Diffuse gastric cancer ? | Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thou... | [
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What are the symptoms of Achondroplasia ? | What are the signs and symptoms of Achondroplasia? In babies, apnea occurs when breathing stops for more than 15 seconds. Snoring is often a sign of apnea, however most children with achondroplasia snore. Obstructive apnea or disordered breathing in sleep may be suspected if the child has increased retraction, glottal ... | [
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Is Stargardt macular degeneration inherited ? | Stargardt macular degeneration can have different inheritance patterns. When mutations in the ABCA4 gene cause this condition, it 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 carr... | [
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What are the symptoms of Mnire's disease ? | What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Verti... | [
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What causes Sickle Cell Disease ? | Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD).
The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemogl... | [
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How to diagnose Lip and Oral Cavity Cancer ? | Tests that examine the mouth and throat are used to detect (find), diagnose, and stage lip and oral cavity cancer. The following tests and procedures may be used: - Physical exam of the lips and oral cavity: An exam to check the lips and oral cavity for abnormal areas. The medical doctor or dentist will feel ... | [
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What is (are) Attention Deficit-Hyperactivity Disorder ? | Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD includ... | [
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What are the treatments for Breast Cancer ? | Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body... | [
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What are the symptoms of Hypoplastic left heart syndrome ? | What are the signs and symptoms of Hypoplastic left heart syndrome? Normally, oxygen-poor blood is pumped through the right side of the heart to the lungs, where it gains oxygen and returns to the left side of the heart. The oxygen-rich blood is then pumped from the left side of the heart to the rest of the body. At bi... | [
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What are the treatments for Landau-Kleffner Syndrome ? | Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started early. A controversial treatment option involves a surgical technique called multiple subpial transection in which the pathways of abnormal electrical brain activity are severed | [
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What is (are) Methylmalonic acidemia with homocystinuria, type cblC ? | Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment... | [
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What is (are) Salivary Gland Cancer ? | Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. Salivary gland cancer is a type ... | [
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Is prion disease inherited ? | Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused... | [
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What is (are) Congenital dyserythropoietic anemia type 2 ? | Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallsto... | [
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What are the symptoms of Autosomal recessive polycystic kidney disease ? | What are the signs and symptoms of Autosomal recessive polycystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive polycystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this ... | [
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What is (are) Catamenial pneumothorax ? | Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that o... | [
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What causes What I need to know about Crohn's Disease ? | Researchers are studying the possible causes of Crohns disease. Your bodys natural defense system, called the immune system, protects you from infection by fighting against bacteria, viruses, and other things that can make you sick. Researchers believe that with Crohns disease, the immune system attacks harmless bacter... | [
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What are the symptoms of Hyperlipidemia type 3 ? | What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | [
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What are the treatments for Maffucci syndrome ? | These resources address the diagnosis or management of Maffucci syndrome: - Genetic Testing Registry: Maffucci syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun... | [
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What is (are) Valley Fever ? | Valley Fever is a disease caused by a fungus (or mold) called Coccidioides. The fungi live in the soil of dry areas like the southwestern U.S. You get it from inhaling the spores of the fungus. The infection cannot spread from person to person. Anyone can get Valley Fever. But it's most common among older adults, es... | [
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Is myofibrillar myopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | [
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What are the symptoms of Jervell Lange-Nielsen syndrome ? | What are the signs and symptoms of Jervell Lange-Nielsen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell Lange-Nielsen 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 Med... | [
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What are the symptoms of Pseudohypoparathyroidism type 1C ? | What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | [
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What are the symptoms of Age-related Macular Degeneration ? | AMD is detected during a comprehensive eye exam that includes a visual acuity test, a dilated eye exam, and tonometry. Tests for AMD - The visual acuity test is an eye chart test that measures how well you see at various distances. - In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupil... | [
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What are the symptoms of Hereditary neuralgic amyotrophy ? | What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. 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... | [
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What is (are) Malakoplakia ? | Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney. Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli is the m... | [
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What are the symptoms of Neutral lipid storage disease with myopathy ? | What are the signs and symptoms of Neutral lipid storage disease with myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutral lipid storage disease with myopathy. If the information is available, the table below includes how often the symptom is seen in people with this cond... | [
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What are the treatments for Von Hippel-Lindau Disease (VHL) ? | Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. this pressure can block the flow of cerebrospinal fluid in the nerv... | [
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What is (are) multiple sclerosis ? | Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is con... | [
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What are the genetic changes related to MECP2 duplication syndrome ? | MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building block... | [
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What are the treatments for Schimke immunoosseous dysplasia ? | How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop. Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency. Blood thinning medicatio... | [
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What are the treatments for Breast Cancer ? | Chemotherapy is the use of drugs to kill cancer cells. A patient may take chemotherapy by mouth in pill form, or it may be put into the body by inserting a needle into a vein or muscle. Chemotherapy is called whole body or systemic treatment if the drug(s) enter the bloodstream, travel through the body, and kill cancer... | [
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What is (are) Central Cord Syndrome ? | Central cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. The brain's ability to send and receive signals to and from parts of the body below the site of injury is reduced but not entirely blocked. This syndrome i... | [
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What causes Pityriasis rubra pilaris ? | What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins th... | [
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How many people are affected by very long-chain acyl-CoA dehydrogenase deficiency ? | VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. | [
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What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. If the information is available, the table b... | [
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Who is at risk for Glaucoma? ? | Encourage them to have a comprehensive dilated eye exam at least once every two years. Remember -- lowering eye pressure in glaucoma's early stages slows progression of the disease and helps save vision. Get tips on finding an eye care professional. | [
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What are the symptoms of Dyschromatosis universalis hereditaria ? | What are the signs and symptoms of Dyschromatosis universalis hereditaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyschromatosis universalis hereditaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | [
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What are the treatments for Alagille Syndrome ? | Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. Ot... | [
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How many people are affected by retroperitoneal fibrosis ? | Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. The disorder occurs approximately twice as often in men as it does in women, but the reason for this difference is unclear. | [
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How to diagnose Multiple endocrine neoplasia type 1 ? | Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Gene... | [
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What are the treatments for Ulcerative Colitis ? | A health care provider treats ulcerative colitis with
- medications - surgery
Which treatment a person needs depends on the severity of the disease and the symptoms. Each person experiences ulcerative colitis differently, so health care providers adjust treatments to improve the perso... | [
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What are the genetic changes related to hepatic veno-occlusive disease with immunodeficiency ? | VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such a... | [
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What are the symptoms of Slipped capital femoral epiphysis ? | What are the signs and symptoms of Slipped capital femoral epiphysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Slipped capital femoral epiphysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | [
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What are the treatments for familial osteochondritis dissecans ? | These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and managemen... | [
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What is (are) phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterize... | [
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What are the genetic changes related to alpha-1 antitrypsin deficiency ? | Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack no... | [
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What are the treatments for retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | These resources address the diagnosis or management of RAMSVPS: - Calgary Retina Consultants: Retinal Arterial Macroaneurysm - Genetic Testing Registry: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis - MedlinePlus Encyclopedia: Fluorescein Angiography - University of Rochester Medical Center: P... | [
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What is (are) Pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate ca... | [
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What is (are) Kaposi's Sarcoma ? | Kaposi's sarcoma is a cancer that causes patches of abnormal tissue to grow under the skin, in the lining of the mouth, nose, and throat or in other organs. The patches are usually red or purple and are made of cancer cells and blood cells. The red and purple patches often cause no symptoms, though they may be painful.... | [
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What are the symptoms of Ring chromosome 10 ? | What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 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 Medical Diction... | [
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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... | [
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What are the genetic changes related to infantile-onset ascending hereditary spastic paralysis ? | Infantile-onset ascending hereditary spastic paralysis is caused by mutations in the ALS2 gene. This gene provides instructions for making the alsin protein. Alsin is produced in a wide range of tissues, with highest amounts in the brain, particularly in motor neurons. Alsin turns on (activates) multiple proteins calle... | [
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What causes Balance Problems ? | Yes. Many prescription medications, such as those used to lower blood pressure, can make a person feel dizzy. Other medicines might damage the inner ear. These medicines, called ototoxic medicines, can make you feel off balance. Sometimes the damage lasts only as long as you take the drug. Other times it is permanent. ... | [
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Who is at risk for Thalassemias? ? | Family history and ancestry are the two risk factors for thalassemias.
Family History
Thalassemias are inheritedthat is, the genes for the disorders are passed from parents to their children. If your parents have missing or altered hemoglobin-making genes, you may have thalassemia.
... | [
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What is (are) Glaucoma ? | National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov The Glaucoma Foundation 80 Maiden Lane, Suite 700 New York, NY 10038 212-285-0080 Glaucoma Research Foundation 251 Post Street, Suite 600 San Francisco, CA 9410... | [
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What is (are) Striatonigral Degeneration ? | Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disord... | [
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How many people are affected by Peyronie's Disease ? | Researchers estimate that Peyronies disease may affect 1 to 23 percent of men between 40 and 70 years of age.1 However, the actual occurrence of Peyronies disease may be higher due to mens embarrassment and health care providers limited reporting.1 The disease is rare in young men, although it has been reported in men ... | [
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What are the genetic changes related to histidinemia ? | Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin. HAL gene mutations lead to the production of a histidase enzym... | [
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Is hereditary hypophosphatemic rickets inherited ? | Hereditary hypophosphatemic rickets can have several patterns of inheritance. When the condition results from mutations in the PHEX gene, it is inherited in an X-linked dominant pattern. The PHEX gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mut... | [
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Do you have information about Medicaid | Summary : Medicaid is government health insurance that helps many low-income people in the United States to pay their medical bills. The Federal government sets up general guidelines for the program, but each state has its own rules. Your state might require you to pay a part of the cost for some medical services. ... | [
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Is pyruvate kinase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? | You already know you need to watch how much you drink. Any food that is liquid at room temperature also contains water. These foods include soup, Jell-O, and ice cream. Many fruits and vegetables contain lots of water, too. They include melons, grapes, apples, oranges, tomatoes, lettuce, and celery. All these foods add... | [
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What are the symptoms of Pierson syndrome ? | What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a ... | [
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What are the symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus ? | What are the signs and symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus? The Human Phenotype Ontology provides the following list of signs and symptoms for Natal teeth, intestinal pseudoobstruction and patent ductus. If the information is available, the table below includes how often the symptom ... | [
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How to diagnose Ehlers-Danlos syndrome ? | How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagn... | [
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What are the symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | What are the signs and symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? The signs and symptoms of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may develop any time after birth. Affected people generally experience symptoms of androgen (male h... | [
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What are the symptoms of Familial congenital fourth cranial nerve palsy ? | What are the signs and symptoms of Familial congenital fourth cranial nerve palsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial congenital fourth cranial nerve palsy. If the information is available, the table below includes how often the symptom is seen in people with thi... | [
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What is (are) carnitine palmitoyltransferase II deficiency ? | Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.... | [
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What are the genetic changes related to heterotaxy syndrome ? | Heterotaxy syndrome can be caused by mutations in many different genes. The proteins produced from most of these genes play roles in determining which structures should be on the right side of the body and which should be on the left, a process known as establishing left-right asymmetry. This process occurs during the ... | [
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What is (are) Stomach Disorders ? | Your stomach is an organ between your esophagus and small intestine. It is where digestion of protein begins. The stomach has three tasks. It stores swallowed food. It mixes the food with stomach acids. Then it sends the mixture on to the small intestine. Most people have a problem with their stomach at one time or ... | [
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What causes Low Vision ? | Low vision can result from a variety of diseases, disorders, and injuries that affect the eye. Many people with low vision have age-related macular degeneration, cataracts, glaucoma, or diabetic retinopathy. Age-related macular degeneration accounts for almost 45 percent of all cases of low vision. | [
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How many people are affected by X-linked myotubular myopathy ? | The incidence of X-linked myotubular myopathy is estimated to be 1 in 50,000 newborn males worldwide. | [
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What are the genetic changes related to congenital central hypoventilation syndrome ? | Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the n... | [
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Is Townes-Brocks syndrome inherited ? | Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the co... | [
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What are the treatments for PMM2-congenital disorder of glycosylation ? | These resources address the diagnosis or management of PMM2-CDG: - Gene Review: Gene Review: PMM2-CDG (CDG-Ia) - Genetic Testing Registry: Carbohydrate-deficient glycoprotein syndrome type I These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | [
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What are the symptoms of Primary Myelofibrosis ? | Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. Primary myelofibrosis often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by primary myelofibrosis or by other conditions. Check with your doctor... | [
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Is X-linked agammaglobulinemia 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... | [
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What is (are) Pulmonary vein stenosis ? | Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing o... | [
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What are the treatments for spastic paraplegia type 2 ? | These resources address the diagnosis or management of spastic paraplegia type 2: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Spastic paraplegia 2 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies T... | [
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What are the symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ? | What are the signs and symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and o... | [
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What are the treatments for Aicardi syndrome ? | These resources address the diagnosis or management of Aicardi syndrome: - Baylor College of Medicine - Gene Review: Gene Review: Aicardi Syndrome - Genetic Testing Registry: Aicardi's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... | [
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Who is at risk for Age-related Macular Degeneration? ? | AMD is most common in older people, but it can occur during middle age. The risk increases with age. Other risk factors include smoking, obesity, white race, family history of AMD, and female gender. | [
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What is the outlook for Menkes Disease ? | Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Me... | [
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Is CHST3-related skeletal dysplasia 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. | [
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What are the symptoms of Atrial septal defect ostium primum ? | What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | [
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What is (are) Lung Cancer ? | The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a ... | [
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What are the treatments for inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia These resources from MedlinePlus... | [
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What is (are) Lattice corneal dystrophy type 1 ? | Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma. Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene. | [
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What is (are) Degenerative Nerve Diseases ? | Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. Sometime... | [
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What is (are) cutis laxa ? | Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging an... | [
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How many people are affected by Muckle-Wells syndrome ? | Muckle-Wells syndrome is a rare disorder. It has been reported in many regions of the world, but its prevalence is unknown. | [
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