Abstract：
The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (MC), to severe disability with muscle weakness, cardiac conduction defects, and other systemic features as in myotonic dystrophy type I (DM1). In this review, we describe the clinical features and pathophysiology of the different myotonic disorders, their laboratory and electrophysiologic findings and briefly review the currently available treatments.
摘要：
肌强直性疾病是一组异质性的遗传决定的疾病，由肌强直性的存在统一，这被定义为激活后肌肉松弛的失败。这些疾病的表现可以从无症状的肌电强直，从某些形式的先天性肌强直（MC）中可以看出，严重的残疾与肌肉无力，心脏传导缺陷,以及其他系统性特征，如I型肌强直性营养不良（DM1）。在这次审查中,我们描述了不同肌强直性疾病的临床特征和病理生理学，他们的实验室和电生理结果，并简要回顾目前可用的治疗方法。
