myotonic dystrophy

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myotonic dystrophy

[¦mī·ə¦tän·ik ′dis·trə·fē]
(medicine)
A hereditary disease, transmitted as an autosomal dominant, characterized by lack of normal relaxation of muscles after contraction, slowly progressive muscular weakness and atrophy, especially of the face and neck, cataract formation, early baldness, gonadal atrophy, abnormal glucose tolerance curve, and, frequently, mental deficiency.
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References in periodicals archive ?
The incidence of dystrophia myotonica in the general population is estimated to be 5 in 100,000 people (0.00005%).
(19) have demonstrated that paternally inherited disease-causing expansions of the dystrophia myotonica protein kinase (DMPK) gene can be detected from maternal plasma.
Myotonic dystrophy, also referred to as dystrophia myotonica or Steinert's disease (7), is named after the German physician who first described the condition in 1904.