Progressive Myoclonic Epilepsy
Myoclonic seizures are epileptic seizures in which the main manifestation is myoclonus. Myoclonus is accompanied by a generalized epileptiform discharge but the myoclonus may be generalized, segmental, or focal. Progressive myoclonic epilepsies (PMEs) are an unusual and heterogeneous group of epilepsies with debilitating progression, resistance to conventional treatment, and poor prognosis. Although initial manifestations may be similar to idiopathic generalized epilepsies or juvenile myoclonic epilepsy, therapeutic failure and progressive worsening of neurological signs suggest PME. Despite its broad clinical spectrum, PME has several distinctive clinical characteristics including myoclonus, multiple seizure types, delay or regression in psychomotor development, and cerebellar signs.
KeywordsStatus Epilepticus Psychomotor Development Myoclonic Epilepsy Neuronal Ceroid Lipofuscinosis Cerebellar Sign
The patient exhibits multifocal action myoclonus involving the face, trunk, and extremities. (Video contribution from Dr. AV. Delgado-Escueta, UCLA.)
Progressive myoclonic epilepsy.mp4 (MP4 18,869KB)