Department of Biostatistics, School of Health, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Student Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran.
J Orthop Surg Res. 2022 Feb 15;17(1):96. doi: 10.1186/s13018-022-02996-8.
A variety of mutations in the largest human gene, dystrophin, cause a spectrum from mild to severe dystrophin-associated muscular dystrophies. Duchenne (DMD) and Becker (BMD) muscular dystrophies are located at the severe end of the spectrum that primarily affects skeletal muscle. Progressive muscle weakness in these purely genetic disorders encourages families with a positive history for genetic counseling to prevent a recurrence, which requires an accurate prevalence of the disorder. Here, we provide a systematic review and meta-analysis to determine the prevalence of DMD and BMD worldwide.
The current systematic review and meta-analysis was carried out using Cochrane seven-step procedure. After determining the research question and inclusion and exclusion criteria, the MagIran, SID, ScienceDirect, WoS, ProQuest, Medline (PubMed), Embase, Cochrane, Scopus, and Google Scholar databases were searched to find relevant studies using defined keywords and all possible keyword combinations using the AND and OR, with no time limit until 2021. The heterogeneity of studies was calculated using the I test, and the publication bias was investigated using the Begg and Mazumdar rank correlation test. Statistical analysis of data was performed using Comprehensive Meta-Analysis software (version 2).
A total of 25 articles involving 901,598,055 people were included. The global prevalence of muscular dystrophy was estimated at 3.6 per 100,000 people (95 CI 2.8-4.5 per 100,000 people), the largest prevalence in the Americans at 5.1 per 100,000 people (95 CI 3.4-7.8 per 100,000 people). According to the subgroup analysis, the prevalence of DMD and BMD was estimated at 4.8 per 100,000 people (95 CI 3.6-6.3 per 100,000 people) and 1.6 per 100,000 people (95 CI 1.1-2.4 per 100,000 people), respectively.
Knowing the precise prevalence of a genetic disorder helps to more accurately predict the likelihood of preventing its occurrence in families. The global prevalence of DMD and BMD was very high, indicating the urgent need for more attention to prenatal screening and genetic counseling for families with a positive history.
人类最大的基因 dystrophin 中存在多种突变，导致一系列从轻度到重度的与 dystrophin 相关的肌肉营养不良症。杜氏肌营养不良症（DMD）和贝克肌营养不良症（BMD）位于该谱的严重端，主要影响骨骼肌。这些纯遗传性疾病的进行性肌肉无力促使有遗传咨询阳性史的家庭预防疾病复发，这需要准确了解该疾病的患病率。在这里，我们进行了一项系统评价和荟萃分析，以确定全球范围内 DMD 和 BMD 的患病率。
本系统评价和荟萃分析采用 Cochrane 七步程序进行。在确定研究问题和纳入排除标准后，使用定义的关键字和所有可能的关键字组合，通过 AND 和 OR 搜索 MagIran、SID、ScienceDirect、WoS、ProQuest、Medline（PubMed）、Embase、Cochrane、Scopus 和 Google Scholar 数据库，以找到相关研究，无时间限制，直至 2021 年。使用 I 检验计算研究的异质性，并使用 Begg 和 Mazumdar 等级相关检验调查发表偏倚。使用 Comprehensive Meta-Analysis 软件（版本 2）对数据进行统计分析。
共纳入 25 篇文章，涉及 901598055 人。估计全球肌肉营养不良症的患病率为每 10 万人中有 3.6 人（95%置信区间为每 10 万人中有 2.8-4.5 人），美国人的最大患病率为每 10 万人中有 5.1 人（95%置信区间为每 10 万人中有 3.4-7.8 人）。根据亚组分析，DMD 和 BMD 的患病率估计分别为每 10 万人中有 4.8 人（95%置信区间为每 10 万人中有 3.6-6.3 人）和每 10 万人中有 1.6 人（95%置信区间为每 10 万人中有 1.1-2.4 人）。
了解遗传疾病的准确患病率有助于更准确地预测其在有阳性家族史的家庭中发生的可能性。DMD 和 BMD 的全球患病率非常高，表明迫切需要更加关注有阳性家族史的家庭的产前筛查和遗传咨询。
