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

Myotonic dystrophy

Charles A Thornton  1
Affiliations
Review

Myotonic dystrophy

Charles A Thornton. Neurol Clin. 2014 Aug.

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.

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References

    1. Suominen T, Bachinski LL, Auvinen S, et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet. 2011;19:776–782. - PMC - PubMed
    1. Norwood FL, Harling C, Chinnery PF, et al. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132:3175–3186. - PMC - PubMed
    1. Siciliano G, Manca M, Gennarelli M, et al. Epidemiology of myotonic dystrophy in Italy: reapprisal after genetic diagnosis. Clin Genet. 2001;59:344–349. - PubMed
    1. Magee A, Nevin NC. The epidemiology of myotonic dystrophy in Northern Ireland. Community Genet. 1999;2:179–183. - PubMed
    1. Harper PS. Myotonic Dystrophy. W.B. Saunders Company; London: 2001.

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