Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. Disease data Klasyfikacja Disease Synonimy EPM5 EPM5 PME typu 5 PME type 5 Progressive myoclonus epilepsy type 5 Kod ORPHA 402082 Kod OMIM 607459 Kod ICD10 G40.3 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl