dystrophia myotonica

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(myotonic dystrophy) a type of muscular dystrophy in which the muscle weakness and wasting is accompanied by an unnatural prolongation of the muscular contraction after any voluntary effort (see myotonia). The muscles of the face, temples, and neck are especially wasted. Baldness, endocrine malfunction, and cataracts also occur. The disease can affect both sexes (it is inherited as an autosomal dominant disorder). Genetic testing for mutations in the dystrophia myotonica protein kinase gene is now possible.

Subjects: Medicine and Health.

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