Progressive myoclonic epilepsy type 8

Orpha code: 424027OMIM code: 616230

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
-

No additional description.

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