Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS (). The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. Measurement of compound muscle action potentials elicited by repetitive nerve stimulation is required to diagnose CMS. Clinical and electrophysiological features are not sufficient to identify a defective molecule, and genetic studies are always required for accurate diagnosis. From a pharmacological point of view, cholinesterase inhibitors are effective in most groups of CMS, but are contraindicated in some groups of CMS. Similarly, ephedrine, salbutamol (albuterol), amifampridine are effective in most but not all groups of CMS. This review extensively covers pathomechanical and clinical features of CMS by citing 442 relevant articles.
先天性肌无力综合征（CMS）是一组异质性疾病，其特征是由于神经肌肉接头（NMJ）表达的种系致病性变异导致神经肌肉信号传递受损。CMS 已报道了 35 个基因（）。根据 CMS 患者的病理力学、临床和治疗特征，这 35 个基因可分为 14 组。重复神经刺激诱发的复合肌肉动作电位测量是诊断 CMS 的必要条件。临床和电生理特征不足以确定有缺陷的分子，因此总是需要进行遗传研究以进行准确诊断。从药理学角度来看，胆碱酯酶抑制剂在 CMS 的大多数组中有效，但在 CMS 的某些组中禁忌。同样，麻黄碱、沙丁胺醇（舒喘灵）、阿米福汀在 CMS 的大多数组中有效，但并非所有组都有效。通过引用 442 篇相关文章，本综述广泛涵盖了 CMS 的病理力学和临床特征。
