title: Myotonic dystrophy.
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.
authors.affiliation: 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.
authors.forename: Charles A
authors.initials: CA
authors.lastname: Thornton
mesh_terms: D005060:Europe / Q000208:ethnology; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism
keywords: Electrophysiology; Expanded DNA repeat; Myopathy; Myotonic dystrophy