Khwaja G A, Chowdhury D, Gupta M
Department of Neurology, G.B. Pant Hospital, New Delhi, 110002, India.
Neurol India. 2000 Sep;48(3):266-71.
The term 'congenital myasthenic syndrome' (CMS) encompasses a number of heterogeneous disorders characterised by myasthenic symptoms since birth, usually with positive family history and absence of acetyl choline receptor antibodies. Recent advances in electrophysiology and ultrastructural analysis of neuromuscular junction have made it possible to identify the various defects underlying these disorders. We report four cases of CMS, with a review of literature.
术语“先天性肌无力综合征”(CMS)涵盖了多种异质性疾病,其特征为自出生起就出现肌无力症状,通常有阳性家族史且无乙酰胆碱受体抗体。神经肌肉接头的电生理学和超微结构分析方面的最新进展使得识别这些疾病背后的各种缺陷成为可能。我们报告了4例CMS病例,并对相关文献进行了综述。