Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Steinert myotonic dystrophy

ORPHA:273
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
UMLS
  • C2931688
MeSH
  • C538008
GARD
MedDRA -

Summary

Disease definition

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

Epidemiology

It is the most frequent of the adult-onset muscular dystrophies; its prevalence is estimated at 1/20,000 inhabitants.

Etiology

The disease is associated with abnormalities at the 19q13-2 locus (abnormally high CTG triplet repetition).

Diagnostic methods

Detection of the 19q13-2 anomalies using molecular genetic techniques confirms the diagnosis.

Antenatal diagnosis

Prenatal diagnosis is proposed especially for maternal transmission because of the severity of the possible neonatal forms.

Genetic counseling

Transmission is autosomal dominant, and anticipation may occur, that is, disease may be more severe and occur earlier in offspring. Genetic counseling is often delicate for this condition because of the wide variability in clinical expression, both within and between families.

Management and treatment

Management ideally includes multidisciplinary annual follow-up.

Prognosis

Disease course is usually slowly progressive but rapid deterioration may sometimes be observed. Life expectancy is reduced by the increased mortality associated with the pulmonary and cardiac complications.

Expert reviewer(s)

  • Dr Muriel BOST
  • Dr Françoise BOUHOUR
  • Dr Christophe VIAL

(*) 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

Detailed information

Emergency guidelines
Anesthesia guidelines
Review article
Clinical practice guidelines
Article for general public
Clinical genetics review
Get Acrobat Reader
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.