Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
The Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London & Great Ormond Street Hospital Trust, London, United Kingdom.
Handb Clin Neurol. 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2.
Pediatric skeletal muscle channelopathies include a spectrum of conditions including nondystrophic myotonias and periodic paralyses. They are rare inherited conditions that can cause significant morbidity. They are characterized by episodic stiffness and weakness. While there is significant phenotypic variability, there are distinct diagnostic features. The nondystrophic myotonias encompass myotonia congenita, paramyotonia congenita, and sodium channel myotonia caused by mutations in chloride and sodium channels. The clinical manifestations vary across age groups and a small subset with sodium channel mutations may have severe presentation with fetal akinesia, laryngospasm, or congenital myopathy. The periodic paralyses include hypokalemic periodic paralysis, hyperkalemic periodic paralysis, and Andersen-Tawil syndrome. The phenotypic differences between the groups can be helpful in diagnosis. It is important to review the cardiac phenotype in Andersen-Tawil syndrome due to a risk of life-threatening cardiac arrhythmias. Early and accurate diagnosis utilizing clinical features aided by investigations is important across all the pediatric channelopathies, as effective symptomatic treatment is available and can substantially improve quality of life.
儿科骨骼肌通道病包括一系列病症，包括非营养不良性肌强直和周期性瘫痪。它们是罕见的遗传性疾病，可导致严重的发病率。其特征是间歇性僵硬和无力。尽管存在明显的表型变异性，但具有明显的诊断特征。非营养不良性肌强直包括先天性肌强直、先天性副肌强直和氯离子通道和钠离子通道突变引起的钠离子通道肌强直。临床表现随年龄组而异，一小部分钠离子通道突变的患者可能表现出严重的胎儿运动不能、喉痉挛或先天性肌病。周期性瘫痪包括低钾周期性瘫痪、高钾周期性瘫痪和 Andersen-Tawil 综合征。这些组之间的表型差异有助于诊断。由于存在危及生命的心律失常风险，因此在 Andersen-Tawil 综合征中需要复查心脏表型。利用临床特征和检查进行早期和准确诊断对于所有儿科通道病都很重要，因为有有效的对症治疗方法，可以大大提高生活质量。
