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Epidemiological data on Steinert desease - Different forms of myotonic dystrophy - Transmission of myotonic dystrophy - Signs of myotonic dystrophy 

Responsible genes - How is myotonic dystrophy diagnosed - Risks of myotonic dystrophy - Treatment of myotonic dystrophy

 

    Type 1 Myotonic Dystrophy, also called Steinert Dystrophy for the German Doctor who first described this disease in 1909 as a dominantly transmitted muscular dystrophy. Over the course of the last 10 years, another form of Myotonic Dystrophy that is very similar to Steinert Dystrophy as far as symptoms are concerned, but having a different genetic anomaly, was described. This other form is called Type 2 Myotonic Dystrophy (DM2). Recently, a third form of Myotonic Dystrophy associated with dementia was described. The gene responsible for this last form has not yet been identified but the disease is called Type 3 Myotonic Dystrophy (DM3).

In summary, there are actually 3 forms of Myotonic Dystrophy:

  • Type 1 Myotonic Dystrophy (DM1) : Steinert Disease
  • Type 2 Myotonic Dystrophy (DM2) : still called Proximal Myotonic Myopathy (PROMM)
  • Type 3 Myotonic Dystrophy (DM3) : associated with dementia

Type 1 Myotonic Dystrophy is by far the most frequent of the three, followed by Type 2 Myotonic Dystrophy. Type 3 is much rarer.

Human genetic department

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E-mail: sec.genetique@crchul.ulaval.ca

Institut de Réadaptation en Déficience Physique de Québec

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Phone : 418-529-9141

 

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