[Progressive Myoclonus Epilepsy: Diversity of Disorders and Key Points in Clinical Practice].

Progressive myoclonic epilepsies (PMEs) are a group of disorders characterized by progressive (1)myoclonus, (2)myoclonic and generalized tonic-clonic seizures, (3)cerebellar symptoms, and (4)cognitive decline. PMEs encompass various genetic disorders, including dentatorubral-pallidoluysian atrophy, benign adult familial myoclonus epilepsy, myoclonic epilepsy with ragged-red fibers, Unverricht-Lundborg disease, and Lafora disease. The diagnosis is based on clinical symptoms, inheritance patterns, electrophysiological findings, and genetic or pathological tests. Treatment for PMEs remains primarily symptomatic for seizures and myoclonus, although perampanel has reportedly improved epileptic symptoms with rational pharmacological properties. This review highlights the clinical features, genetic bases, and diagnostic and therapeutic advancements in PMEs, offering a comprehensive overview of this challenging and diverse group of disorders.