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Unverricht-Lundborg disease

Disease definition

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

ORPHA:308

  • Synonym(s):
    • PME type 1
    • Progressive myoclonic epilepsy type 1
    • Progressive myoclonus epilepsy type 1
    • ULD
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G40.3
  • OMIM: 254800  310370  612437
  • UMLS: C0751785
  • MeSH: D020194
  • GARD: 3876
  • MedDRA: 10054895

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