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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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