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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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Symptoms

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What are the signs and symptoms of myotonic dystrophy?

Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; cataracts; and cardiac conduction defects (irregular electrical control of the heartbeat). Some affected men also have hormonal changes that may cause balding or infertility.[1][2]

The severity of symptoms can vary widely among affected people. The signs and symptoms of type 1 and type 2 overlap, but type 2 is generally more mild than type 1. People who are born with the condition have congenital myotonic dystrophy, which is a variation of type 1. Congenital myotonic dystophy causes weakness of all muscles, in addition to breathing problems, developmental delays and intellectual disabilities.[1][2]
Last updated: 3/12/2014

References
  1. Myotonic dystrophy. Genetics Home Reference. November, 2010; http://ghr.nlm.nih.gov/condition/myotonic-dystrophy. Accessed 3/12/2014.
  2. Learning About Myotonic Dystrophy. NHGRI. June 4, 2012; http://www.genome.gov/25521207. Accessed 3/12/2014.


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.