Myotonic dystrophies type 1 and 2: a summary on current aspects

Semin Pediatr Neurol. 2006 Jun;13(2):71-9. doi: 10.1016/j.spen.2006.06.002.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Creatine Kinase / metabolism
  • Immunoglobulins / metabolism
  • Myotonic Dystrophy* / classification
  • Myotonic Dystrophy* / genetics
  • Myotonic Dystrophy* / physiopathology
  • RNA-Binding Proteins / genetics
  • Trinucleotide Repeat Expansion
  • gamma-Glutamyltransferase / metabolism


  • CNBP protein, human
  • Immunoglobulins
  • RNA-Binding Proteins
  • gamma-Glutamyltransferase
  • Creatine Kinase