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Lafora disease

Disease definition

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

ORPHA:501

  • Synonym(s):
    • EPM2
    • PME type 2
    • Progressive myoclonic epilepsy type 2
    • Progressive myoclonus epilepsy type 2
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent
  • ICD-10: G40.3
  • OMIM: 254780
  • UMLS: C0751783
  • MeSH: D020192
  • GARD: 8214
  • MedDRA: 10054030

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