Прогресуюча міоклонічна епілепсія, тип 8
ORPHA:424027· ICD-10 G40.3· Progressive myoclonic epilepsy type 8
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Childhood