Прогресуюча міоклонічна епілепсія, тип 7
ORPHA:435438· ICD-10 G40.3· Progressive myoclonic epilepsy type 7
Визначення(English summary)
A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood