Myotonic dystrophy.

Authors :: Thornton CA
Source :: Neurologic clinics [Neurol Clin] 2014 Aug; Vol. 32 (3), pp. 705-19, viii. Date of Electronic Publication: 2014 Jun 06.
Publication Year :: 2014
Abstract: Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene. Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. This article reviews the clinical presentation and pathophysiology of DM and discusses current management and future potential for developing targeted therapies.<br /> (Copyright © 2014 Elsevier Inc. All rights reserved.)