Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA,
Curr Treat Options Neurol. 2014 Oct;16(10):313. doi: 10.1007/s11940-014-0313-6.
Neuromuscular channelopathies are heterogeneous disorders with marked phenotypic and genotypic variability. These include non-dystrophic myotonia (NDM), periodic paralysis (PP), and congenital myasthenic syndrome (CMS). Their diverse clinical manifestations remain a challenge in diagnosis and management to this date. These disorders impact quality of life and cause lifelong disabling symptoms. Treatment options are few and not FDA-approved. This is largely due to a paucity of large, randomized clinical trials in these rare diseases. Challenges of conducting such trials include the rarity of these disorders and the genetic heterogeneity. Physicians rely on off-label use of drugs to treat muscle channelopathies to reduce morbidity and improve quality of life. Besides pharmacological treatment, dietary modifications, lifestyle changes, awareness of triggers, and genetic counseling also play an important role in long-term disease management. This article reviews the current management strategies for neuromuscular channelopathies.
神经肌肉通道病是一种具有明显表型和基因型变异性的异质性疾病。这些疾病包括非营养不良性肌强直症（NDM）、周期性瘫痪（PP）和先天性肌无力综合征（CMS）。这些疾病的临床表现多种多样，给诊断和治疗带来了挑战。这些疾病会影响生活质量，导致终身残疾。目前的治疗选择很少，且未获得 FDA 批准。这在很大程度上是由于这些罕见疾病缺乏大型、随机临床试验。开展此类试验面临的挑战包括这些疾病的罕见性和遗传异质性。医生依赖于药物的标签外使用来治疗肌肉通道病，以降低发病率并提高生活质量。除了药物治疗外，饮食调整、生活方式改变、对触发因素的认识以及遗传咨询也在疾病的长期管理中发挥着重要作用。本文综述了神经肌肉通道病的当前管理策略。
