Myotonic dystrophy type 1: neurological features

Evidence-based neurology checklist on myotonic dystrophy type 1: neurological features: Genetics It is caused by DMPK gene mutations on chromosome 19q It is a CTG repeat disorder CTG repeats Facial appearance Central features Peripheral muscle features Peripheral neuropathy (PN) Associated…

Genetics

  • It is caused by DMPK gene mutations on chromosome 19q
  • It is a CTG repeat disorder

CTG repeats

Facial appearance

Central features

Peripheral muscle features

Peripheral neuropathy (PN)

Associated autoimmune disorders

Myotonic crisis

References

  1. Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. JNNP 2010; 81:358-367.
  2. Gagnon C, Noreau L, Moxley RT, et al. Towards an integrative approach to the management of myotonic dystrophy type 1. JNNP 2007; 78:800-806.
  3. Ropper AH, Brown RH. Principles of Neurology. Eighth edition. McGraw Hill New York 2005 p1221.
  4. Longman C. Myotonic dystrophy. J R Coll Physicians Edin 2006; 36:51-55.
  5. Winblad S, Samuelsson L, Lindberg C, Meola G. Cognition in myotonic dystrophy type 1: a 5-year follow-up study. Eur J Neurol 2016; 23:1471-1476. 
  6. And 13 more. Subscribe to see the full list

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