Orphanet: Steinert myotonic dystrophy
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:273

Classification level: Disorder
  • Synonym(s):
    • DM1
    • MD1
    • Myotonic dystrophy type 1
    • Steinert disease
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Adult
  • ICD-10: G71.1
  • OMIM: 160900
  • UMLS: C2931688
  • MeSH: C538008
  • GARD: 8310
  • MedDRA: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.