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Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy


Other Names for this Disease
  • Dystrophia myotonica
  • Myotonia atrophica
  • Myotonia dystrophica
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Overview


Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family.[1]

There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.[1]
Last updated: 3/12/2014

References

  1. Myotonic dystrohpy. Genetics Home Reference (GHR). November 2010; http://ghr.nlm.nih.gov/condition=myotonicdystrophy. Accessed 7/15/2011.
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Basic Information

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Myotonic dystrophy. Click on the link to view a sample search on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of myotonic dystrophy. Click on the links below to go to OMIM and review these resources.
    Myotonic dystrophy type 1
    Myotonic dystrophy type 2

Selected Full-Text Journal Articles