A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies

Jean K. Mah, Lawrence Korngut, Kirsten M. Fiest, Jonathan Dykeman, Lundy J. Day, Tamara Pringsheim, Nathalie Jette

Research output: Contribution to journalArticlepeer-review

106 Scopus citations


Background: The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance. Methods: We previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databases. Two reviewers independently reviewed all abstracts, full-text articles, and abstracted data from 1985 to 2011. Pooling of prevalence estimates was performed using random-effect models. Results: A total of 1104 abstracts and 167 full-text articles were reviewed. Thirty-one studies met all eligibility criteria and were included in the final analysis. The overall pooled prevalence of combined muscular dystrophies was 16.14 (confidence interval [CI], 11.21-23.23) per 100,000. The prevalence estimates per 100,000 were 8.26 (CI, 4.99-13.68) for myotonic dystrophy, 3.95 (CI, 2.89-5.40) for facioscapulohumeral dystrophy, 1.63 (CI, 0.94-2.81) for limb girdle muscular dystrophy, and 0.99 (CI, 0.62-1.57) for congenital muscular dystrophies. Conclusions: The studies differed widely in their approaches to case ascertainment, and substantial gaps remain in the global estimates of many other types of muscular dystrophies. Additional epidemiological studies using standardized diagnostic criteria as well as multiple sources of case ascertainment will help address the economic impact and health care burden of muscular dystrophies worldwide.

Original languageEnglish
Pages (from-to)163-177
Number of pages15
JournalCanadian Journal of Neurological Sciences
Issue number1
StatePublished - 5 Jun 2015
Externally publishedYes


  • Epidemiology
  • muscular dystrophies
  • population-based
  • prevalence systematic review


Dive into the research topics of 'A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies'. Together they form a unique fingerprint.

Cite this