Abstract：
The field of pediatric skeletal muscle channelopathies has seen major new advances in terms of a wider understanding of clinical presentations and new phenotypes. Skeletal muscle channelopathies cause significant disability and even death in some of the newly described phenotypes. Despite this, there are virtually no data on the epidemiology and longitudinal natural history of these conditions or randomized controlled trial evidence of efficacy or tolerability of any treatment in children, and thus best practice care recommendations do not exist. Clinical history, and to a lesser extent examination, is key to eliciting symptoms and signs that indicate a differential diagnosis of muscle channelopathy. Normal routine investigations should not deter one from the diagnosis. Specialist neurophysiologic investigations have an additional role, but their availability should not delay genetic testing. New phenotypes are increasingly likely to be identified by next-generation sequencing panels. Many treatments or interventions for symptomatic patients are available, with anecdotal data to support their benefit, but we lack trial data on efficacy, safety, or superiority. This lack of trial data in turn can lead to hesitancy in prescribing among doctors or in accepting medication by parents. Holistic management addressing work, education, activity, and additional symptoms of pain and fatigue provides significant benefit. Preventable morbidity and sometimes mortality occurs if the diagnosis and therefore treatment is delayed. Advances in genetic sequencing technology and greater access to testing may help to refine recently identified phenotypes, including histology, as more cases are described. Randomized controlled treatment trials are required to inform best practice care recommendations. A holistic approach to management is essential and should not be overlooked. Good quality data on prevalence, health burden, and optimal treatment are urgently needed.
摘要：
在对临床表现和新表型的更广泛理解方面，小儿骨骼肌通道病领域取得了重大进展。在一些新描述的表型中，骨骼肌通道病导致严重的残疾甚至死亡。尽管如此,几乎没有关于这些疾病的流行病学和纵向自然史的数据，也没有任何儿童治疗的疗效或耐受性的随机对照试验证据，因此，最佳实践护理建议不存在。临床病史,在较小程度上的检查，是诱发症状和体征的关键，这些症状和体征表明了肌通道病的鉴别诊断。正常的常规检查不应阻止诊断。专科神经生理学研究还有一个额外的作用，但是它们的可用性不应该延迟基因检测。新的表型越来越可能被下一代测序小组鉴定。对有症状的患者有许多治疗或干预措施，有轶事数据来支持他们的利益，但是我们缺乏关于疗效的试验数据，安全,或优势。这种缺乏试验数据反过来会导致医生在处方或父母接受药物时犹豫不决。整体管理寻址工作，教育,活动,和疼痛和疲劳的额外症状提供了显著的益处。如果诊断和治疗延迟，则发生可预防的发病率和有时死亡。基因测序技术的进步和更多的检测机会可能有助于改进最近确定的表型，包括组织学,随着更多案例的描述。需要进行随机对照治疗试验以提供最佳实践护理建议。全面的管理方法至关重要，不应忽视。关于患病率的高质量数据，健康负担,和最佳治疗是迫切需要的。
