Abstract：
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.
摘要：
我们提供了基因定义的骨骼肌信道病的最新和准确的最低患病率点，这对于理解人口影响很重要。计划治疗需求和未来的临床试验。骨骼肌通道病包括先天性肌强直（MC），钠通道肌强直（SCM），先天性副肌强直（PMC），高钾血症周期性麻痹（hyperPP），低钾性周期性麻痹（hypoPP）和Andersen-Tawil综合征（ATS）。纳入了转诊到英国国家骨骼肌信道病转诊中心并居住在英国的患者，以使用国家统计局人口估计的最新数据来计算最低点患病率。我们计算出所有骨骼肌信道病的最低点患病率为1.99/100000（95％CI1.981-1.999）。由于CLCN1变体引起的MC的最小点患病率为1.13/100000（95％CI1.123-1.137），编码PMC和SCM的SCN4A变体为0.35/100000（95％CI0.346-0.354），周期性麻痹（HyperPP和HypoPP）为0.41/100000（95％CI0.406-0.414）。苯丙胺类兴奋剂的最低点患病率为0.1/100000(95%CI0.098-0.102)。与以前的报道相比，骨骼肌信道病的点患病率总体上有所增加，发现增幅最大的是MC。这可以归因于下一代测序和临床进展，骨骼肌信道病的电生理和遗传特征。
