Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. Disease data Classification Disease Synonyms EPM8 EPM8 PME typu 8 Postępująca padaczka miokloniczna z powodu niedoboru CERS1 PME type 8 Progressive myoclonic epilepsy due to CERS1 deficiency Progressive myoclonus epilepsy type 8 ORPHA code 424027 OMIM code 616230 ICD10 code G40.3 ICD11 code - *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