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Diseases

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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Cause

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What causes myotonic dystrophy?

Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. In myotonic dystrophy, the gene instability leads to a series of events that ultimately prevent cells in muscles and other tissues from acting normally, leading to the features of the condition.

The exact functions of these genes in not well understood. The DMPK gene may play a role in communication within cells, specifically in cells of the heart, brain, and skeletal muscles. The CNBP gene gives directions to make a protein found mainly in cells of the heart and skeletal muscles, where it is thought to regulate the activities of other genes.[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.


Other Names for this Disease
  • Dystrophia myotonica
  • Myotonia atrophica
  • Myotonia dystrophica
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.