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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy type 1


Other Names for this Disease
  • DM1
  • Dystrophia myotonica type 1
  • Steinert disease
  • Steinert myotonic dystrophy
  • Steinert's disease
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Inheritance


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How is myotonic dystrophy type 1 inherited?

Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. [1]

As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon is called anticipation

Some individuals diagnosed with Myotonic dystrophy type 1 have an obviously affected parent; others do not. A parent may appear to be unaffected because symptoms may be mild or absent. Genetic testing is available to confirm the presence of the condition. [1]
Last updated: 5/11/2011

References
  1. Bird, T. Myotonic Dystrophy Type 1. GeneReviews. February 8, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1165/. Accessed 5/11/2011.