Lafora Disease

A rare, fatal autosomal recessive inherited disorder caused by mutations in the EPM2A and NHLRC1 genes. 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.

Source: NCI Thesaurus (C84804).