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La·fo·ra bod·y dis·ease(lah-fō'rah), [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.
Synonym(s): Lafora disease
Farlex Partner Medical Dictionary © Farlex 2012
A fatal autosomal recessive disease marked by Lafora bodies within neurons and the cells of the heart, liver, muscle, and skin. Symptoms include seizures, drop attacks, myoclonus, ataxia, and a quickly developing and severe dementia. Synonym: familial myoclonic epilepsy
See also: Lafora, Gonzalo R
Medical Dictionary, © 2009 Farlex and Partners
Lafora,Gonzalo Rodriguez, Spanish neurologist, 1887-1971.
Lafora body - an intraneural intracytoplasmic inclusion body seen in familial myoclonus epilepsy.
Lafora body disease - myoclonus epilepsy beginning at 11 to 18 years of age with progressive mental impairment. Synonym(s): Lafora disease
Lafora disease - Synonym(s): Lafora body disease
Medical Eponyms © Farlex 2012