Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate. Disease data Classification Disease Synonyms MSCAE Mitochondrialna ataksja rdzeniowo-móżdżkowa z padaczką MSCAE SCAE Mitochondrial spinocerebellar ataxia with epilepsy SCAE ORPHA code 254881 OMIM code 607459 ICD10 code E88.8 ICD11 code 5C53.21 *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