Definition Hirschsprung’s disease is a rare birth defect that affects the large intestine (bowel). It is caused by missing some or all of the nerve cells in your intestine. Nerve cells are important because they tell your intestine to push stools through your bowel. This condition occurs while a baby …
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Definition Familial hypercholesterolemia is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease. People with FH have a high amount of low density lipoprotein (LDL) or “bad cholesterol” due to a mutation in one of the genes that controls the …
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Definition Refsum disease is a genetic disorder that affects the metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an …
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Definition Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. …
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What is Brugada syndrome? Brugada syndrome is a genetic disorder that can causes a dangerous irregular heartbeat. In many cases, a defect in the SCN5A gene causes the genetic form of this condition. When this defect occurs, it may cause a ventricular arrhythmia. This is a type of irregular heartbeat. …
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Definition Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy. On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia; speech difficulties; adrenal insufficiency; sexual …
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What is Fabry Disease? Fabry Disease (FD) is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of …
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What is Becker muscular dystrophy? Becker muscular dystrophy (BMD) is one of nine types of muscular dystrophies, a group of genetic, degenerative diseases primarily affecting voluntary muscles. BMD belongs to a group of dystrophinopathies including Duchenne muscular dystrophy (DMD) and an intermediate form between DMD and BMD. The disease is …
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Diseases Treatments Dictionary Complete solution for all diseases && disorders treatments. To know any Diseases that which may it causes, symptoms on your body, and how can prevent from them, what to do on first aid, Definition’s, Diagnosis and Test, Risk Factors, specific treatments. You may learn in this Diseases Treatment Dictionary.
