Mah Jean K, Korngut Lawrence, Fiest Kirsten M, Dykeman Jonathan, Day Lundy J, Pringsheim Tamara, Jette Nathalie
1Department of Clinical Neurosciences,University of Calgary,Calgary,Alberta,Canada.
Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311.
The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance.
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.
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.
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.
肌营养不良症是一组异质性的遗传性肌肉疾病，肌无力分布和遗传方式各不相同。
我们之前对全球范围内基于人群的杜氏和贝克肌营养不良症研究进行了系统评价；本研究利用Medline和EMBASE数据库，聚焦于其他肌营养不良症的流行病学。两名评价者独立评价了1985年至2011年期间所有的摘要、全文文章以及提取的数据。采用随机效应模型对患病率估计值进行汇总。
共检索了1104篇摘要和167篇全文文章。31项研究符合所有纳入标准并纳入最终分析。合并肌营养不良症的总体汇总患病率为每10万人16.14（置信区间[CI]，11.21 - 23.23）。每10万人的患病率估计值分别为：强直性肌营养不良症8.26（CI，4.99 - 13.68），面肩肱型肌营养不良症3.95（CI，2.89 - 5.40），肢带型肌营养不良症1.63（CI，0.94 - 2.81），先天性肌营养不良症0.99（CI，0.62 - 1.57）。
这些研究在病例确定方法上差异很大，许多其他类型肌营养不良症的全球估计仍存在很大差距。采用标准化诊断标准以及多种病例确定来源的额外流行病学研究将有助于解决全球肌营养不良症的经济影响和医疗负担问题。
