Skip to Content
Medical Term:

myotonic dystrophy

 

Definition: the most common adult muscular dystrophy, characterized by progressive muscle weakness and wasting of some of the cranial innervated muscles, as well as the distal limb muscles; other clinical features include myotonia, cataracts, hypogonadism, cardiac abnormalities, and frontal balding; onset usually in the the third decade; autosomal dominant inheritance caused by abnormal trinucleotide repeat expansion in the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q. This disorder demonstrates anticipation (increase in severity in successive generations because of successive amplification of the trinucleotide repeats); the severe congenital form is almost always confined to the children of affected women.

Synonym(s): dystrophia myotonica, myotonia atrophica, myotonia dystrophica, Steinert disease

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide