LAUSR

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.