Department of Biomedical and Dental Sciences and Morphofunctional Imaging, G. Martino Hospital/University of Messina, Building G, 1, Via Consolare Valeria, 98125, Messina, Italy.
Unit of Biostatistics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Orphanet J Rare Dis. 2020 Jun 5;15(1):141. doi: 10.1186/s13023-020-01430-8.
Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to estimate the global overall and birth prevalence of DMD through an updated systematic review of the literature.
MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of DMD from inception until 1st October 2019. Studies were included if they were original observational research articles written in English, reporting DMD prevalence and/or incidence along with the number of individuals of the underlying population. The quality of the studies was assessed using a STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) checklist adapted for observational studies on rare diseases. To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using random-effects logistic models for overall and birth prevalence and within two different underlying populations (i.e. all individuals and in males only), separately. Heterogeneity was assessed using Cochran's Q-test along with its derived measure of inconsistency I.
A total of 44 studies reporting the global epidemiology of DMD were included in the systematic review and only 40 were included in the meta-analysis. The pooled global DMD prevalence was 7.1 cases (95% CI: 5.0-10.1) per 100,000 males and 2.8 cases (95% CI: 1.6-4.6) per 100,000 in the general population, while the pooled global DMD birth prevalence was 19.8 (95% CI:16.6-23.6) per 100,000 live male births. A very high between-study heterogeneity was found for each epidemiological outcome and for all underlying populations (I > 90%). The test for funnel plot asymmetry suggested the absence of publication bias. Of the 44 studies included in this systematic review, 36 (81.8%) were assessed as being of medium and 8 (18.2%) of low quality, while no study was assessed as being of high quality.
Generating epidemiological evidence on DMD is fundamental to support public health decision-making. The high heterogeneity and the lack of high quality studies highlights the need to conduct better quality studies on rare diseases.
杜氏肌营养不良症（DMD）是一种由肌营养不良蛋白基因突变引起的罕见疾病。目前尚无关于全球 DMD 流行病学的系统评价和荟萃分析。本研究旨在通过对文献的系统更新，估计全球 DMD 的总体和出生患病率。
检索 MEDLINE 和 EMBASE 数据库，以获取截至 2019 年 10 月 1 日关于 DMD 流行病学的原始研究文章。如果研究是关于 DMD 患病率和/或发病率的原始观察性研究文章，并报告了基础人群的个体数量，则纳入研究。使用针对罕见疾病的观察性研究的 STROBE 检查表评估研究质量。为了得出汇总的流行病学患病率估计值，使用随机效应逻辑模型分别对总体和出生患病率以及两个不同的基础人群（即所有个体和仅男性）进行荟萃分析。使用 Cochran's Q 检验及其不一致性 I 度量评估异质性。
本系统评价共纳入 44 项报告全球 DMD 流行病学的研究，其中仅 40 项纳入荟萃分析。汇总的全球 DMD 患病率为每 100,000 名男性 7.1 例（95%CI：5.0-10.1），每 100,000 名普通人群 2.8 例（95%CI：1.6-4.6），而全球 DMD 出生患病率为每 100,000 名活产男性 19.8 例（95%CI：16.6-23.6）。每个流行病学结果和所有基础人群都存在很高的研究间异质性（I>90%）。漏斗图不对称检验表明不存在发表偏倚。本系统评价纳入的 44 项研究中，36 项（81.8%）评估为中等质量，8 项（18.2%）评估为低质量，没有研究评估为高质量。
生成 DMD 的流行病学证据对于支持公共卫生决策至关重要。高异质性和缺乏高质量研究表明，需要对罕见疾病进行更好质量的研究。
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