Myotonic Muscular Dystrophies

Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695. doi: 10.1212/CON.0000000000000793.


Purpose of review: This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystrophy type 1 and myotonic dystrophy type 2.

Recent findings: The prevalence of myotonic dystrophy type 1 is better understood than the prevalence of myotonic dystrophy type 2, and new evidence indicates that the risk of cancer is increased in patients with the myotonic dystrophies. In addition, descriptions of the clinical symptoms and relative risks of comorbidities such as cardiac arrhythmias associated with myotonic dystrophy type 1 have been improved.

Summary: Myotonic dystrophy type 1 and myotonic dystrophy type 2 are both characterized by progressive muscle weakness, early-onset cataracts, and myotonia. However, both disorders have multisystem manifestations that require a comprehensive management plan. While no disease-modifying therapies have yet been identified, advances in therapeutic development have a promising future.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Myotonic Dystrophy* / diagnosis
  • Myotonic Dystrophy* / genetics
  • Myotonic Dystrophy* / physiopathology
  • Myotonic Dystrophy* / therapy