Early-onset Lafora body disease
Early-onset Lafora body disease
Definition
Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.
Also known as epilepsy, progressive myoclonic, 10, epilepsy, progressive myoclonic, type 10, EPM10 — per MONDO