Myotonia Congenita

先天性肌强直
  • 文章类型: Journal Article
    非营养不良性肌张力障碍是由SCN4A基因中的功能获得突变或CLCN1基因中的功能丧失突变引起的罕见的肌肉兴奋过度障碍。临床上,它们的特点是肌强直,定义为自愿收缩后延迟的肌肉松弛,导致肌肉僵硬的症状,疼痛,疲劳,和弱点。诊断基于病史和检查结果,肌电图上存在肌电强直,和遗传确认。在没有遗传确认的情况下,详细的电生理测试支持诊断,排除其他相关疾病,并分析不确定意义的变体(如果存在)。钠通道阻滞剂对症治疗,比如美西律,通常是管理的第一步,以及教育患者潜在的麻醉并发症。
    The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号