Orphanet: Steinert myotonic dystrophy

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Steinert myotonic dystrophy

Disease definition

A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.


Classification level: Disorder
  • Synonym(s):
    • Myotonic dystrophy type 1
    • Steinert disease
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Infancy, Childhood, Adolescent, Neonatal, Adult
  • ICD-10: G71.1
  • ICD-11: 8C71.0
  • OMIM: 160900
  • UMLS: C2931688
  • MeSH: C538008
  • GARD: 8310
  • MedDRA: -

Detailed information

General public


Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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