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Progressive myoclonic epilepsy type 5
Disease definition
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.
ORPHA:402082
Classification level: Disorder- Synonym(s):
- EPM5
- PME type 5
- Progressive myoclonus epilepsy type 5
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adolescent
- ICD-10: G40.3
- OMIM: 607459
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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