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 antiseizure medication and individuals have a normal life expectancy. However, the myoclonus severity increases with age and leads to some degree of disability in the elderly. Because the non-coding repeat expansions responsible for FAME are not detected by routine genetic tests being used at this time, a clinical diagnosis accompanied by neurophysiological testing remains essential to guide the geneticist on the selection of the specific genetic technique.

Automated summary

Familial adult myoclonus epilepsy (FAME) is an autosomal dominant condition characterized by myoclonic tremor and epilepsy, mainly occurring in adulthood. The clinical course is generally non-progressive or slowly progressive, and epilepsy can be controlled with appropriate medication, allowing individuals to have a normal life expectancy. However, the severity of myoclonus increases with age and can lead to disability in elderly individuals. Since routine genetic tests cannot detect the non-coding repeat expansions responsible for FAME, a clinical diagnosis accompanied by neurophysiological testing is essential for guiding the selection of specific genetic techniques by geneticists.