Lafora disease

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

Lafora disease

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 epilepsySee also: Lafora, Gonzalo R

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 diseaseLafora disease - Synonym(s): Lafora body disease

单词	lafora disease
释义	DictionarySeeLafora's disease Lafora disease La·fo·ra bod·y dis·ease (lah-fō'rah), [MIM254780] 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 Lafora disease 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 epilepsySee also: Lafora, Gonzalo R 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 diseaseLafora disease - Synonym(s): Lafora body disease
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