progressive myoclonic epilepsy with dystonia https://www.malacards.org/card/progressive_myoclonic_epilepsy_with_dystonia MEDGEN:1642042 Orphanet:352596 GARD:0017522 A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. UMLS:C4706413 progressive myoclonus epilepsy with dystonia MONDO:0018126 SCTID:763349002 PMED infantile epilepsy syndrome