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Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Disease definition

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

ORPHA:2590

  • Synonym(s):
    • Hereditary myoclonus-progressive distal muscular atrophy syndrome
    • Jankovic-Rivera syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G25.3
  • OMIM: 159950
  • UMLS: C1834569
  • MeSH: -
  • GARD: 3875
  • MedDRA: -

Additional information

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