The Myotonic Dystrophies

  • Joline DaltonEmail author
  • Jill S. Goldman
  • Jacinda B. Sampson


Myotonic dystrophy is a progressive, multi-systemic condition causing muscle weakness and myotonia. Additional symptoms include cataracts, gastrointestinal abnormalities, male reduced fertility, diabetes, and cardiac conduction defects. Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion in the DMPK gene and type 2 (DM2) by a CCTG repeat expansion in the ZNF9 gene. Whereas age of onset correlates with repeat size in DM1 with anticipation, onset and severity do not correlate well with the repeat expansion size in DM2. The non-dystrophic myotonic disorders produce myotonia without muscle weakness. These conditions are caused by mutations in ion channel genes.


Genetic Counselor Club Foot Myotonic Dystrophy Myotonic Dystrophy Type ZNF9 Gene 
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Supplementary material

Myotonic dystrophy Part 1 (MOV 301,391 kb)

Myotonic dystrophy Part 2 (MOV 259,511 kb)


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Joline Dalton
    • 1
    Email author
  • Jill S. Goldman
    • 2
  • Jacinda B. Sampson
    • 3
  1. 1.Paul and Sheila Wellstone Muscular Dystrophy CenterUniversity of MinnesotaMinneapolisUSA
  2. 2.Taub InstituteColumbia University Medical CenterNew YorkUSA
  3. 3.Department of NeurologyColumbia University Medical CenterNew YorkUSA

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