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Progressive myoclonic epilepsy type 6

Disease definition

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

ORPHA:280620

  • Synonym(s):
    • EPM6
    • GOSR2-related progressive myoclonus ataxia
    • North Sea progressive myoclonus epilepsy
    • PME type 6
    • Progressive myoclonus epilepsy type 6
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G40.3
  • OMIM: 614018
  • UMLS: -
  • MeSH: -
  • GARD: 3872
  • MedDRA: -

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