coffin lowry disease
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Coffin-Lowry syndrome Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development.
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- Alpers' disease, also called Alpers' syndrome, Alpers-Huttenlocher syndrome (AHS), progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system first recognized by Alfons Maria Jakob, a German neuropathologist, that occurs mostly in infants and children.
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Coffin-Lowry syndrome Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.
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- Kikuchi-Fujimoto disease (KFD), or histiocytic necrotizing lymphadenitis, is a benign and self-limited disease that mainly affects young women. Kikuchi-Fujimoto disease (histiocytic necrotizing lymphadenitis): report of a case with other autoimmune manifestations
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- Maple syrup urine disease is also known as branched-chain ketonuria. It is caused by a deficiency in the branched-chain α-keto acid dehydrogenase enzyme. This is a single enzyme that acts on all three branched-chain keto acids that are produced from transamination of Val, Leu, and Ile.
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Goodpasture syndrome Goodpasture syndrome (GPS; also known as Goodpasture’s disease, antiglomerular basement antibody disease, or anti-GBM disease) is a rare autoimmune disease in which antibodies attack the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.PS causes the abnormal production of anti-GBM antibodies, by the plasma cells of the blood. The anti-GBM antibodies attack the alveoli and glomeruli basement membranes. These antibodies bind their reactive epitopes to the basement membranes and activate the complement cascade, leading to the death of tagged cells.
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Coffin-Lowry syndrome Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome. Additional features of this condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities.
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Hemophilia B PrintFriendly. Hemophilia B, also called factor IX (FIX) deficiency or Christmas disease, is a genetic disorder caused by missing or defective factor IX, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a change in a gene.
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Overview Creutzfeldt-Jakob disease and its variants belong to a broad group of human and animal diseases known as transmissible spongiform encephalopathies (TSEs). The name derives from the spongy holes, visible under a microscope, that develop in affected brain tissue. The cause of Creutzfeldt-Jakob disease and other TSEs appears to be abnormal versions of a kind of protein called a prion. Normally these proteins are harmless. But when they're misshapen, they become infectious and can harm normal biological processes.
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- In severe cases, the deformities can lead to spinal cord compression as well as breathing and lung ailments. THE SCHEUERMANN'S DISEASE FUND……. is the first, and only, charity in the world created help those afflicted with Scheuermann’s Disease, or Scheuermann’s Kyphosis, as it is sometimes called.
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- Maple syrup urine disease is caused by decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex (BCKAD), the second enzymatic step in the degradative pathway of the BCAAs. BCKAD has four subunit components (E1a, E1b, E2, and E3).
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Werdnig-Hoffmann disease  (SMA1) Type I spinal muscular atrophy (also called Werdnig-Hoffman disease) is a severe form of the disorder that is evident at birth or within the first few months of life. Affected infants are developmentally delayed; most are unable to support their head or sit unassisted.MA-LED and the late-onset form of spinal muscular atrophy caused by VAPB gene mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. X-linked spinal muscular atrophy is inherited in an X-linked pattern.
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Infectious Diseases Affecting Reindeer and Other Cervids Infectious Diseases Affecting Reindeer and Other Cervids. Brucellosis is a bacterial disease which is endemic in most herds in Alaska and Northern Canada. Before establishing a new arming herd, reindeer should always be tested and negative serologically for brucellosis.
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Taurodontism NIH Rare Diseases, Wikipedia, MalaCards. See all MalaCards sources. NIH Rare Diseases: Taurodontism is a disorder of tooth development and occurs most commonly in permanent molar teeth. it refers to an elongation of the pulp chamber of the tooth, which can cause the tooth to lie deep in the jaw (aveolar process). at this time the cause of taurodontism is unknown. last updated: 7/18/2013.
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- Ask if they admit children to age-restricted movies as long as an adult purchases their ticket for them. If they don't, see if they'll admit you if you're accompanied by an adult into the theater. Go to your parent. Ask them to see the movie with you or to simply buy the ticket for you when they drop you off. If they immediately say no just because of the movie’s rating, argue that the rating system is very inconsistent.
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- Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder that, if untreated, causes mental retardation, physical disabilities and death.First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births.aple Syrup Urine Disease (MSUD) is an inherited metabolic disorder that, if untreated, causes mental retardation, physical disabilities and death.
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Tay-Sachs Disease Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).
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Hemiballismus Hemiballismus, formerly called ballism, is a very rare movement disorder, caused in most cases by a decrease in activity of the subthalamic nucleus of the basal ganglia, resulting in the appearance of flailing, ballistic, undesired movements of the limbs. It can also appear rarely due to certain metabolic abnormalities.his is another form of tumor that can result in the brain as a result of a tuberculous meningitis infection. This type of tumor can also damage parts of the basal ganglia, sometimes resulting in hemiballismus.
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Lemierreâs syndrome Also known as Lemierre’s disease and postanginal septicemia, Lemierre’s syndrome is a very rare disease where a throat infection caused by the bacterium Fusobacterium necrophorum leads to secondary infection and blood clot formation in the internal jugular vein.
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Histoplasmosis Histoplasmosis (also known as Cave disease, Darling's disease, Ohio valley disease, reticuloendotheliosis, spelunker's lung and caver's disease) is a disease caused by the fungus Histoplasma capsulatum. Symptoms of this infection vary greatly, but the disease affects primarily the lungs.
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- Chancroid is a highly infectious bacterial disease caused by Haemophilus ducreyi that affects the skin and mucous membranes of the penis, vulva, urethra, and anus. It produces painful irregularly shaped nonsyphilitic ulcers (called chancroids, soft chancres, or soft sores) that may heal without treatment.
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What is Coffin-Lowry Syndrome? The type of inheritance in Coffin-Lowry Syndrome is called X-linked dominant inheritance. The condition affects both males as well as females, though the syndrome is usually mild in females. About 70-80% of affected individuals have no family history of this condition.
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Pick Disease Treatment & Management Decompensation/risk of hospital-acquired delirium. Like all people with dementia, people with Pick disease who are relatively high functioning are at very high risk of hospital-acquired delirium.
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A to Z List of Neurological Disorders Devic's disease, or neuromyelitis optica, (NMO) is a type of inflammatory demyelinating disease. A demyelinating disease occurs when the myelin sheath, a protective covering that surrounds brain and spinal cord nerves is damaged. In the case of Devic's disease, the patient develops myelitis (inflammation of the spinal cord) and optic neuritis (inflammation of the optic nerve).
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The MPS Diseases Hunter syndrome has a different form of inheritance from the other MPS diseases as it is sex-linked like haemophilia. Girls may be carriers of the disease but, except in very rare cases, only males will be sufferers. Hunter adults have been known to marry.Their children are unaffected.he MPS diseases are part of a larger group of disorders known as Lysosomal Storage Disorders (LSDs). The combined incidence of LSDs in the population is 1 in 5,000 live births.
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Texas School for the Blind and Visually Impaired Reiter syndrome is a type of reactive arthritis that happens as a reaction to a bacterial infection in the body. The infection usually happens in the intestines, genitals, or urinary tract.Reiter syndrome includes redness, joint swelling and pain, often in knees, ankles, and feet, along with inflammation of the eyes and urinary tract. It is not contagious. But the bacteria that trigger it can be passed from one person to another.he infection usually happens in the intestines, genitals, or urinary tract. Reiter syndrome includes redness, joint swelling and pain, often in knees, ankles, and feet, along with inflammation of the eyes and urinary tract. It is not contagious. But the bacteria that trigger it can be passed from one person to another.