Progressive myoclonic epilepsy with dystonia

Orpha code: 352596OMIM code: 615338

Definition

Progressive myoclonic epilepsy with dystonia is 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.

Disease data
Classification

Disease

Synonyms
PMED
PMED
Progressive myoclonus epilepsy with dystonia
ORPHA code
352596
OMIM code
615338
ICD10 code
G40.3
ICD11 code
-

No additional description.

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