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Lafora body disease (medical condition): A condition characterized by attacks of intermittent or continuous clonus of muscle groups.
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Lafora body disease:
»Introduction: Lafora body disease
Lafora body disease: [MIM*254780] a form of progressive myoclonus epilepsy beginning from age 6-19; characterized by generalized tonic-clonic seizures, resting and action myoclonus, ataxia, dementia, and classic EEG findings, including polyspike and wave discharges; basophilic cytoplasmic inclusion bodies present in portions of the brain, the liver, and skin, as well as the duct cells of the sweat glands. Death usually occurs within 10 years of onset; autosomal recessive inheritance, caused by mutation in the progressive myoclonic epilepsy 2 gene (EPM2A) on chromosome 6q. SYN: Lafora disease.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
Lafora body disease: A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
Source: Diseases Database
These medical condition or symptom topics may be relevant to medical information for Lafora body disease:
Lafora body disease (medical condition): See Lafora body disease (disease information).
»Introduction: Lafora body disease
Lafora body disease: Lafora body disease is listed as a type of (or associated with) the following medical conditions in our database:
Lafora body disease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits two copies of a defective gene, one from each parent. Lafora body disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other intellectual functions). (Source: excerpt from Myoclonus Fact Sheet: NINDS)
Lafora body disease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits two copies of a defective gene, one from each parent. Lafora body disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other intellectual functions). (Source: excerpt from Myoclonus Fact Sheet: NINDS)
These medical disease topics may be related to Lafora body disease:
Source: Diseases Database
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