Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, RS, Brazil.
Medical Genetics Service - Hospital de Clínicas de Porto Alegre, RS, Brazil.
J Neuromuscul Dis. 2023;10(6):1145-1149. doi: 10.3233/JND-230007.
RYR1-related exertional myalgia/rhabdomyolysis (ERM) is an underrecognized condition, which can cause limiting muscle symptoms, and may account for more than one-third of undiagnosed rhabdomyolysis cases. Dantrolene has shown promising results in controlling muscle symptoms in individuals with ERM, however, its use in children remains poorly documented. This case report presents the successful treatment of a 5-year-old patient with ERM using oral dantrolene. The patient experienced notable improvements, including a reduction in the frequency and intensity of myalgia episodes, no hospitalizations due to rhabdomyolysis, a substantial decrease in creatine phosphokinase (CPK) levels, and enhanced performance on the 6-minute walk test. The use of dantrolene was well-tolerated, and no significant adverse effects were observed. This report adds to the existing evidence supporting the effectiveness of oral dantrolene in managing ERM, and, to the best of our knowledge, this is the first report of the use of dantrolene in a pediatric patient for controlling anesthesia-independent muscle symptoms.
RYR1 相关性运动后肌痛/横纹肌溶解症(ERM)是一种认识不足的病症,可引起限制肌肉症状,可能占未确诊的横纹肌溶解症病例的三分之一以上。丹曲林已显示出在控制 ERM 个体的肌肉症状方面有良好的效果,然而,其在儿童中的使用仍记录不佳。本病例报告介绍了使用口服丹曲林成功治疗一名 5 岁 ERM 患者。该患者的症状有显著改善,包括肌痛发作的频率和强度降低、无因横纹肌溶解症住院、肌酸磷酸激酶(CPK)水平显著降低、6 分钟步行测试表现增强。丹曲林的使用耐受性良好,未观察到明显的不良反应。本报告增加了支持口服丹曲林治疗 ERM 有效性的现有证据,据我们所知,这是首例报告使用丹曲林治疗麻醉后肌肉症状的儿科患者。