Vivekanandam Vinojini, Jaibaji Rawan, Sud Richa, Ellmers Rebecca, Skorupinska Iwona, Germaine Louise, James Natalie, Holmes Sarah, Mannikko Roope, Jayaseelan Dipa, Hanna Michael G
Centre for Neuromuscular Disorders, UCL QS Institute of Neurology, Queens Square, London WC1N 3BG, United Kingdom.
University College London, London, United Kingdom.
Neuromuscul Disord. 2023 Mar;33(3):270-273. doi: 10.1016/j.nmd.2023.01.007. Epub 2023 Jan 28.
We provide an up-to-date and accurate minimum point prevalence of genetically defined skeletal muscle channelopathies which is important for understanding the population impact, planning for treatment needs and future clinical trials. Skeletal muscle channelopathies include myotonia congenita (MC), sodium channel myotonia (SCM), paramyotonia congenita (PMC), hyperkalemic periodic paralysis (hyperPP), hypokalemic periodic paralysis (hypoPP) and Andersen- Tawil Syndrome (ATS). Patients referred to the UK national referral centre for skeletal muscle channelopathies and living in UK were included to calculate the minimum point prevalence using the latest data from the Office for National Statistics population estimate. We calculated a minimum point prevalence of all skeletal muscle channelopathies of 1.99/100 000 (95% CI 1.981-1.999). The minimum point prevalence of MC due to CLCN1 variants is 1.13/100 000 (95% CI 1.123-1.137), SCN4A variants which encode for PMC and SCM is 0.35/100 000 (95% CI 0.346 - 0.354) and for periodic paralysis (HyperPP and HypoPP) 0.41/100 000 (95% CI 0.406-0.414). The minimum point prevalence for ATS is 0.1/100 000 (95% CI 0.098-0.102). There has been an overall increase in point prevalence in skeletal muscle channelopathies compared to previous reports, with the biggest increase found to be in MC. This can be attributed to next generation sequencing and advances in clinical, electrophysiological and genetic characterisation of skeletal muscle channelopathies.
我们提供了关于基因定义的骨骼肌通道病的最新且准确的最低时点患病率，这对于理解其对人群的影响、规划治疗需求以及未来的临床试验至关重要。骨骼肌通道病包括先天性肌强直（MC）、钠通道性肌强直（SCM）、先天性副肌强直（PMC）、高钾性周期性麻痹（hyperPP）、低钾性周期性麻痹（hypoPP）和安德森-陶威尔综合征（ATS）。纳入了转诊至英国国家骨骼肌通道病转诊中心且居住在英国的患者，以利用英国国家统计局人口估计的最新数据计算最低时点患病率。我们计算出所有骨骼肌通道病的最低时点患病率为1.99/10万（95%置信区间1.981 - 1.999）。由CLCN1变异导致的MC的最低时点患病率为1.13/10万（95%置信区间1.123 - 1.137），编码PMC和SCM的SCN4A变异的最低时点患病率为0.35/10万（95%置信区间0.346 - 0.354），周期性麻痹（高钾性周期性麻痹和低钾性周期性麻痹）的最低时点患病率为0.41/10万（95%置信区间0.406 - 0.414）。ATS的最低时点患病率为0.1/10万（95%置信区间0.098 - 0.102）。与之前的报告相比，骨骼肌通道病的时点患病率总体有所增加，其中增加幅度最大的是MC。这可归因于下一代测序技术以及骨骼肌通道病在临床、电生理和基因特征描述方面的进展。
