Familial Adult Myoclonus Epilepsy: clinical findings, disease course and comorbidities.

Familial Adult Myoclonus Epilepsy (FAME) is an autosomal dominant condition characterized by the association of myoclonic tremor and epilepsy mainly with onset in adulthood. The clinical course is non-progressive or slowly progressive, as epilepsy is commonly controlled with appropriate antiseizures medication and individuals have a normal life expectancy. However, the myoclonus severity increases with ageing and leads to some degree of disability in the elderly. Since the non-coding repeat expansions responsible for FAME are not detected by routine genetic tests being used at this moment, a clinical diagnosis accompanied by neurophysiological testing remains essential to guide the geneticist on the specific genetic technique to be chosen.