Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 71-79, June 2006

Myotonic Dystrophies Type 1 and 2: A Summary on Current Aspects

  • Ulrike Schara, MD

      Affiliations

    • Department of Neuropediatrics, City Hospital Neuss, Neuss, Germany.
    • Corresponding Author InformationAddress reprint requests to Benedikt G.H. Schoser, MD, Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, Germany.
    • ,
  • Benedikt G.H. Schoser, MD

      Affiliations

    • Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany.

Myotonic dystrophies (DMs) encompass at least 2 forms: myotonic dystrophy type 1 and 2. In general, DMs are late-onset autosomal dominant disorders characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac conduction defects, dilated cardiomyopathy, posterior iridescent cataracts, frontal balding, insulin-resistance and disease-specific serological abnormalities such as gamma-glutamyltransferase and creatine kinase elevations, hyperglycemia, hypotestosteronism, and reduced immunoglobulin (Ig) G and IgM levels. Beyond the adult forms, in the classic DM1, a congenital form and an early-onset form is recognized. Here we summarize current aspects of the myotonic dystrophy pathogenesis and review the core features of both types of myotonic dystrophies, including the congenital DM1.

Keywords: congenital DM, DM1, DM2, myotonic dystrophy, PROMM

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 Supported in part by the German Network on Muscular Dystrophies (MD-NET, 01GM0302) funded by the German Ministry of Education and Research (BMBF, Bonn, Germany).

PII: S1071-9091(06)00092-1

doi:10.1016/j.spen.2006.06.002

Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 71-79, June 2006

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