Lafora disease

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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

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 epilepsy


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
References in periodicals archive ?
In some cases, the diagnosis of a serious disorder such as Lafora disease can provide families with insight or "answers" to serious behavioral challenges.
Lafora disease is an insidious form of myoclonic epilepsy that is very rare.
In addition, genetic screening might not catch all cases of the disorder as it is believed that a third gene yet to be identified is also responsible for the Lafora disease.
We have attempted to outline symptoms of Lafora disease in order to educate professionals as to the medical and mental health aspects of this condition.
Nonepileptic visual hallucinations in Lafora disease.
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.
Lafora disease due to EPM2B mutations: A clinical and genetic study.