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dystrophia myotonica
(redirected from dystrophia)

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dystrophia myotonica

Rare inherited form of muscular dystrophy in which, besides muscle weakness and wasting, there is prolonged muscle contraction after any voluntary effort. It is a feature of a complex condition that also includes: heart and endocrine problems, cataracts, baldness, glucose intolerance, impaired immunity and mild intellectual impairment.



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Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG trinucleotide repeat in a gene for an enzyme (the DMPK gene that encodes the enzyme dystrophia myotonica protein kinase, a serine/threonine kinase).
The muscular dystrophies: from genes to therapies by Bloch, Robert J. / Physical Therapy
Myotonic muscular dystrophy (also known as myotonic dystrophy, dystrophia myotonica or Steinert's disease, and abbreviated MMD, MyD, or DM) is the most common type of adult muscular dystrophy, which affects 1 in 8000 individuals (approximately 40,000 people in the United States).
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