Health and Social Research Center, Universidad de Castilla-La Mancha, 16071, Cuenca, Spain.
Facultad de Ciencias de La Salud, Universidad Autónoma de Chile, 3460000, Talca, Chile.
J Neurol. 2022 Jul;269(7):3461-3469. doi: 10.1007/s00415-022-11040-y. Epub 2022 Mar 1.
Dystrophin alterations in the brain have been associated with an increased risk of epilepsy in Becker and Duchenne muscular dystrophies (BMD and DMD). Moreover, an association between the mutation site and the risk of epilepsy is not ruled out. The aim of this systematic review and meta-analysis was to estimate the prevalence of epilepsy in BMD and DMD populations and to establish a possible association between the site of mutation in the dystrophin gene and the risk of epilepsy. Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were conducted to identify relevant studies published from inception to January 2022. Observational studies of participants with BMD/DMD estimating the prevalence of epilepsy were included. The main outcome was the prevalence of epilepsy, and the secondary outcome was the prevalence ratio considering genotype. A random effects meta-analysis was performed for the prevalence of epilepsy. Eight studies were included in the systematic review and meta-analysis. The prevalence of epilepsy was 7% (95% CI 3-11%) in BMD, 5% (95% CI 2-8%) in DMD, and 5% (95% CI 3-7%) in the overall estimate. No association was observed between mutation site and the prevalence of epilepsy. BMD/DMD is strongly associated with the prevalence of epilepsy, with a higher prevalence in BMD/DMD populations than in the general population, probably owing to alterations in Dp427. The current evidence does not support the hypothesis that Dp140 or Dp71 affect epilepsy risk.
脑内肌营养不良蛋白的改变与 Becker 和 Duchenne 肌营养不良症（BMD 和 DMD）中癫痫的风险增加有关。此外，突变部位与癫痫风险之间的关联尚不能排除。本系统评价和荟萃分析的目的是评估 BMD 和 DMD 人群中癫痫的患病率，并确定肌营养不良蛋白基因突变部位与癫痫风险之间是否存在关联。系统检索了 Medline、Scopus、Web of Science 和 Cochrane Library，以确定从成立到 2022 年 1 月发表的相关研究。纳入了估计 BMD/DMD 患者癫痫患病率的观察性研究。主要结局是癫痫的患病率，次要结局是考虑基因型的患病率比。对癫痫的患病率进行了随机效应荟萃分析。系统评价和荟萃分析共纳入 8 项研究。BMD 中癫痫的患病率为 7%（95%CI 3-11%），DMD 中为 5%（95%CI 2-8%），总体估计为 5%（95%CI 3-7%）。突变部位与癫痫的患病率之间未观察到关联。BMD/DMD 与癫痫的患病率密切相关，BMD/DMD 人群的患病率高于普通人群，这可能是由于 Dp427 的改变。目前的证据不支持 Dp140 或 Dp71 影响癫痫风险的假说。
