PDF(Pubmed)
Abstract：
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-analysis of the literature. Methods: The PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched for original research articles published in English prior to July 30, 2021. The quality of the included studies was assessed by a checklist adapted from STrengthening the Reporting of OBservational studies in Epidemiology (STROBE). To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random effects model. Heterogeneity was assessed using the Cochrane Q statistic as well as the I 2 statistic. Results: A total of 11 studies were included in the systematic review and meta-analysis. Of the 11 studies included, 10 (90.9%) were considered medium-quality, one (9.1%) was considered low-quality, and no study was assessed as having a high overall quality. The pooled prevalence of congenital myopathy in the all-age population was 1.50 (95% CI, 0.93-2.06) per 100,000, while the prevalence in the child population was 2.73 (95% CI, 1.34-4.12) per 100,000. In the pediatric population, the prevalence among males was 2.92 (95% CI, -1.70 to 7.55) per 100,000, while the prevalence among females was 2.47 (95% CI, -1.67 to 6.61) per 100,000. The prevalence estimates of the all-age population per 100,000 were 0.20 (95% CI 0.10-0.35) for nemaline myopathy, 0.37 (95% CI 0.21-0.53) for core myopathy, 0.08 (95% CI -0.01 to 0.18) for centronuclear myopathy, 0.23 (95% CI 0.04-0.42) for congenital fiber-type disproportion myopathy, and 0.34 (95% CI, 0.24-0.44) for unspecified congenital myopathies. In addition, the prevalence estimates of the pediatric population per 100,000 were 0.22 (95% CI 0.03-0.40) for nemaline myopathy, 0.46 (95% CI 0.03-0.90) for core myopathy, 0.44 (95% CI 0.03-0.84) for centronuclear myopathy, 0.25 (95% CI -0.05 to 0.54) for congenital fiber-type disproportion myopathy, and 2.63 (95% CI 1.64-3.62) for unspecified congenital myopathies. Conclusions: Accurate estimates of the prevalence of congenital myopathy are fundamental to supporting public health decision-making. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher-quality studies on orphan diseases.
摘要：
背景：先天性肌病构成一组异质性的孤儿疾病，主要根据肌肉活检结果进行分类。本研究旨在通过文献的系统回顾和荟萃分析来估计先天性肌病的患病率。方法：PubMed，MEDLINE,WebofScience,和Cochrane图书馆数据库在2021年7月30日之前以英语发表的原始研究文章进行了搜索。纳入研究的质量通过根据加强流行病学观察研究报告（STROBE）改编的清单进行评估。为了得出汇总的流行病学流行率估计值，使用随机效应模型进行荟萃分析.使用CochraneQ统计量和I2统计量评估异质性。结果：共有11项研究纳入系统评价和荟萃分析。在包括的11项研究中，10（90.9%）被认为是中等质量的，一个(9.1%)被认为是低质量的，没有一项研究被评估为具有较高的总体质量.所有年龄段的先天性肌病的合并患病率为1.50（95％CI，0.93-2.06）/100,000，而儿童人群的患病率为2.73（95％CI，1.34-4.12）/100,000。在儿科人群中，男性的患病率为2.92(95%CI,-1.70~7.55)/100,000,女性的患病率为2.47(95%CI,-1.67~6.61)/100,000.线虫性肌病的患病率估计为每100,000人的所有年龄段为0.20（95％CI0.10-0.35），核心肌病为0.37（95%CI0.21-0.53），0.08（95％CI-0.01至0.18）为中央核肌病，0.23（95％CI0.04-0.42）用于先天性纤维型不称肌病，未指明的先天性肌病为0.34（95%CI，0.24-0.44）。此外,每100,000名儿科人群中线虫性肌病的患病率估计为0.22（95％CI0.03-0.40），核心肌病为0.46（95%CI0.03-0.90），0.44（95％CI0.03-0.84）为中央核肌病，0.25（95％CI-0.05至0.54）用于先天性纤维型不称肌病，未指明的先天性肌病为2.63（95%CI1.64-3.62）。结论：准确估计先天性肌病的患病率对于支持公共卫生决策至关重要。高度异质性和缺乏高质量研究凸显了对孤儿疾病进行高质量研究的必要性。
