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Proximal myotonic myopathy

Disease definition

A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.


Classification level: Disorder
  • Synonym(s):
    • Myotonic dystrophy type 2
    • Proximal myotonic dystrophy
    • Ricker disease
    • Ricker syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Adolescent, Elderly
  • ICD-10: G71.1
  • OMIM: 602668
  • UMLS: C0752354  C2931689
  • MeSH: D020967
  • GARD: 9728
  • MedDRA: -

Detailed information


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