Skip to main content Accessibility help

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

  • Jean K. Mah (a1) (a2) (a3), Lawrence Korngut (a1) (a3), Kirsten M. Fiest (a1) (a3) (a4), Jonathan Dykeman (a1) (a3) (a4), Lundy J. Day (a1), Tamara Pringsheim (a1) (a2) and Nathalie Jette (a1) (a3) (a4)...


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.

Revue systématique et méta-analyse de l’épidémiologie des dystrophies musculaires. Contexte: Les dystrophies musculaires constituent un groupe hétérogène de maladies musculaires génétiques ayant une distribution de la faiblesse et une hérédité variables. Méthode: Nous avons effectué antérieurement une revue systématique des études populationnelles du monde entier sur la dystrophie musculaire de Duchenne et celle de Becker. Cette étude, effectuée dans les bases de données Medline et EMBASE, cible l’épidémiologie d’autres dystrophies musculaires. Deux examinateurs indépendants ont revu tous les résumés, le texte intégral des articles et les données publiées de 1985 à 2011. Le regroupement des estimés de prévalence a été effectué au moyen de modèles à effets aléatoires. Résultats: En tout, 1104 résumés et 167 articles en texte intégral ont été revus. Trente et une études rencontraient tous les critères d’éligibilité et ont été incluses dans l’analyse finale. La prévalence globale des dystrophies musculaires combinées était de 16,14 (intervalle de confiance [IC] de 11,21 à 23,23) par 100,000 de population. Les estimés de prévalence par 100,000 étaient de 8,26 (IC : 4,99 à 13,68) pour la dystrophie myotonique, 3,95 (IC : 2,89 à 5,40) pour la myopathie facio-scapulo-humérale, 1,63 (IC : 0,94 à 2,81) pour la myopathie scapulo-humérale et 0,99 (IC : 0,62 à 1,57) pour les dystrophies musculaires congénitales. Conclusions: Les études utilisaient des approches sensiblement différentes pour l’identification des cas et il existe des écarts considérables dans les estimés globaux de plusieurs autres types de dystrophies musculaires. D’autres études épidémiologiques utilisant des critères diagnostiques standardisés ainsi que de multiples sources d’identification des cas aideront à faire face à l’impact économique et au fardeau des soins de santé engendrés par les dystrophies musculaires à l’échelle mondiale.

  • View HTML
    • Send article to Kindle

      To send this article to your Kindle, first ensure is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the or variations. ‘’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

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

      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

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

      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

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


Corresponding author

Correspondence to: Jean K. Mah, Alberta Children’s Hospital, 2888 Shaganappi Trail NW, Calgary, Alberta, Canada T3B 6A8. Email:


Hide All
1. Narayanaswami, P, Weiss, M, Selcen, D, David, W, Raynor, E, Carter, G, et al. Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the guideline development subcommittee of the American academy of neurology and the practice issues review panel of the American association of neuromuscular & electrodiagnostic medicine. Neurology. 2014;83:1453-1463.
2. Mah, JK, Korngut, L, Dykeman, J, Day, L, Pringsheim, T, Jette, N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24:482-491.
3. Brook, JD, McCurrach, ME, Harley, HG, Buckler, AJ, Church, D, Aburatani, H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member. Cell. 1992;68:799-808.
4. Ranum, LP, Rasmussen, PF, Benzow, KA, Koob, MD, Day, JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet.. 1998;19:196-198.
5. Campbell, C, Sherlock, R, Jacob, P, Blayney, M. Congenital myotonic dystrophy: assisted ventilation duration and outcome. Pediatrics. 2004;113:811-816.
6. Padberg, GW, Lunt, PW, Koch, M, Fardeau, M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1991;1:231-234.
7. Lemmers, RJ, Tawil, R, Petek, LM, Balog, J, Block, GJ, Santen, GW, et al. Digenic inheritance of an SMCHD1 mutation and an fshd-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012;44:1370-1374.
8. Jardine, PE, Koch, MC, Lunt, PW, Maynard, J, Bathke, KD, Harper, PS, et al. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13e-11 (D4F104S1). Arch Dis Child. 1994;71:221-227.
9. Mercuri, E, Muntoni, F. Muscular dystrophies. Lancet. 2013;381:845-860.
10. Bönnemann, CG, Wang, CH, Quijano-Roy, S, Deconinck, N, Bertini, E, Ferreiro, A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24:289-311.
11. Caesar-Chavannes, C, MacDonald, S. Cross-Canada Forum - National Population Health Study of Neurological Conditions in Canada. Chronic Dis Inj Canada. 2013;33:188-191.
12. Boyle, M. Guidelines for evaluating prevalence studies. Evid Based Mental Health. 1998;1:37-39.
13. R: A language and environment for statistical computing [computer program]. Vienna, Austria; 2011.
14. meta: Meta-Analysis with R [computer program]. Version 1.6-1; 2010.
15. Viechtbauer, W. Conducting meta-analyses in R with the metafor package. J Stat Softw. 2010;36:1-48.
16. Darin, N, Tulinius, M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord. 2000;10:1-9.
17. López de Munain, A, Blanco, A, Emparanza, JI, Poza, JJ, Martí Massó, JF, Cobo, A, et al. Prevalence of myotonic dystrophy in Guipúzcoa (Basque country, Spain). Neurology. 1993;43:1573-1576.
18. Fanin, M, Duggan, DJ, Mostacciuolo, ML, Martinello, F, Freda, MP, Sorarù, G, et al. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997;34:973-977.
19. Fanin, M, Nascimbeni, AC, Fulizio, L, Angelini, C. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord. 2005;15:218-224.
20. Hughes, MI, Hicks, EM, Nevin, NC, Patterson, VH. The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromuscul Disord. 1996;6:69-73.
21. Magee, A, Nevin, NC. The epidemiology of myotonic dystrophy in northern Ireland. Community Genet. 1999;2:179-183.
22. Medica, I, Marković, D, Peterlin, B. Genetic epidemiology of myotonic dystrophy in Istria, Croatia. Acta Neurol Scand. 1997;95:164-166.
23. Mladenovic, J, Pekmezovic, T, Todorovic, S, Rakocevic-Stojanovic, V, Savic, D, Romac, S, et al. Survival and mortality of myotonic dystrophy type 1 (Steinert’s disease) in the population of Belgrade. Eur J Neurol. 2006;13:451-454.
24. Mostacciuolo, ML, Miorin, M, Martinello, F, Angelini, C, Perini, P, Trevisan, CP. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet. 1996;97:277-279.
25. Mostacciuolo, ML, Pastorello, E, Vazza, G, Miorin, M, Angelini, C, Tomelleri, G, et al. Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009;75:550-555.
26. Norwood, FL, Harling, C, Chinnery, PF, Eagle, M, Bushby, K, Straub, V. Prevalence of genetic muscle disease in northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132:3175-3186.
27. Siciliano, G, Manca, M, Gennarelli, M, Angelini, C, Rocchi, A, Ludice, A, et al. Epidemiology of myotonic dystrophy in Italy: Re-appraisal after genetic diagnosis. Clin Genet. 2001;59:344-349.
28. Sposìto, R, Pasquali, L, Galluzzi, F, Rocchi, A, Solìto, B, Soragna, D, et al. Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. Genet Test. 2005;9:30-36.
29. Stensland, E, Lindal, S, Jonsrud, C, Torbergsen, T, Bindoff, LA, Rasmussen, M, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with limb girdle muscular dystrophy 2I. Neuromuscul Disord. 2011;21:41-46.
30. Urtasun, M, Sáenz, A, Roudaut, C, Poza, JJ, Urtizberea, JA, Cobo, AM, et al. Limb-girdle muscular dystrophy in Guipúzcoa (Basque country, Spain). Brain. 1998;121:1735-1747.
31. van der Kooi, AJ, Barth, PG, Busch, HF, de Haan, R, Ginjaar, HB, van Essen, AJ, et al. The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands. Brain. 1996;119:1471-1480.
32. Blumen, SC, Nisipeanu, P, Sadeh, M, Asherov, A, Blumen, N, Wirguin, Y, et al. Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel. Neuromuscul Disord. 1997;7:S38-S40.
33. El-Tallawy, HN, Khedr, EM, Qayed, MH, Helliwell, TR, Kamel, NF. Epidemiological study of muscular disorders in Assiut, Egypt. Neuroepidemiology. 2005;25:205-211.
34. Segel, R, Silverstein, S, Lerer, I, Kahana, E, Meir, R, Sagi, M, et al. Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations. Am J Med Genet A. 2003;119A:273-278.
35. Chung, B, Wong, V, Ip, P. Prevalence of neuromuscular diseases in Chinese children: A study in southern China. J Child Neurol. 2003;18:217-219.
36. Hsiao, KM, Chen, SS, Li, SY, Chiang, SY, Lin, HM, Pan, H, et al. Epidemiological and genetic studies of myotonic dystrophy type 1 in Taiwan. Neuroepidemiology. 2003;22:283-289.
37. Nakagawa, M, Nakahara, K, Yoshidome, H, Suehara, M, Higuchi, I, Fujiyama, J, et al. Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques. Neuroepidemiology. 1991;10:185-191.
38. Ford, C, Kidd, A, Hammond-Tooke, G. Myotonic dystrophy in Otago, New Zealand. N Z Med J. 2006;119:1573-1576.
39. Flanigan, KM, Coffeen, CM, Sexton, L, Stauffer, D, Brunner, S, Leppert, MF. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord. 2001;11:525-529.
40. Emery, A. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord. 1991;1:19-29.
41. Pringsheim, T, Wiltshire, K, Day, L, Dykeman, J, Steeves, T, Jette, N. The incidence and prevalence of Huntington’s disease: a systematic review and meta-analysis. Mov Disord. 2012;27:1083-1091.
42. Pringsheim, T, Jette, N, Frolkis, A, Steeves, TD. The prevalence of Parkinson’s disease: a systematic review and meta-analysis. Mov Disord. 2014;29:1583-1590.
43. Mathieu, J, Prévost, C. Epidemiological surveillance of myotonic dystrophy type 1: a 25-year population-based study. Neuromuscul Disord. 2012;22:974-979.
44. Campbell, C, Levin, S, Siu, VM, Venance, S, Jacob, P. Congenital myotonic dystrophy: Canadian population-based surveillance study. J Pediatr. 2013;163:120-125.
45. St. Germaine-Smith, C, Metcalfe, A, Pringsheim, T, Roberts, JL, Beck, CA, Hemmelgarn, BR, et al. What are the best diagnostic codes to identify neurological conditions in population-based administrative health data? An international systematic review of validation studies. Neurology. 2012;79:1049-1055.
46. Larkindale, J, Yang, W, Hogan, PF, Simon, CJ, Zhang, Y, Jain, A, et al. Cost of illness for neuromuscular diseases in the United States. Muscle Nerve. 2014;49:431-438.
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Canadian Journal of Neurological Sciences
  • ISSN: 0317-1671
  • EISSN: 2057-0155
  • URL: /core/journals/canadian-journal-of-neurological-sciences
Please enter your name
Please enter a valid email address
Who would you like to send this to? *



Altmetric attention score

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed