A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes epm2a and epm2b. it is characterized by the presence of cytoplasmic inclusion bodies called lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. the lafora bodies contain mucopolysaccharides. signs and symptoms include seizures, myoclonus, ataxia, and dementia.

Lafora disease is a rare, autosomal recessive genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells...