Format

Send to

Choose Destination
Neurol Clin. 2014 Aug;32(3):705-19, viii. doi: 10.1016/j.ncl.2014.04.011. Epub 2014 Jun 6.

Myotonic dystrophy.

Author information

1
Department of Neurology, Center for Neural Development and Disease, Center for RNA Biology, University of Rochester Medical Center, Box 645, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: charles_thornton@urmc.rochester.edu.

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.

KEYWORDS:

Electrophysiology; Expanded DNA repeat; Myopathy; Myotonic dystrophy

PMID:
25037086
PMCID:
PMC4105852
DOI:
10.1016/j.ncl.2014.04.011
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center