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Myotonic dystrophy: Etiology, clinical features, and diagnosis

INTRODUCTION

Myotonic dystrophy (DM) is a clinically and genetically heterogeneous disorder. There are two major forms:

DM1, for a century known as Steinert's disease

DM2, recognized in 1994 as a milder version of DM1.

The prevalence of DM is 1 in 8000 in the general population, but the proportions of myotonic dystrophy caused by DM1 and DM2 are unknown.

These autosomal dominant conditions are among the most common forms of adult-onset muscular dystrophy. However, DM is more than simply a muscular dystrophy per se, since affected individuals may show cataracts, cardiac conduction abnormalities, infertility, and insulin resistance. Furthermore, there is a severe congenital form of DM1 with marked developmental disability.

                            

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Literature review current through: Aug 2014. | This topic last updated: Aug 25, 2014.
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