临床误诊误治2025，Vol.38Issue(13)：16-20,5.DOI:10.3969/j.issn.1002-3429.2025.13.004
先天性肌无力综合征临床特征及误诊原因分析
Analysis of Clinical Characteristics and Causes of Misdiagnosis of Congenital Myasthenic Syndromes
摘要
Abstract
Objective To explore the clinical characteristics,causes of misdiagnosis and preventive measures of con-genital myasthenic syndromes(CMS).Methods A retrospective analysis was conducted on the clinical data of 9 patients with CMS who were misdiagnosed as other diseases from January 2019 to December 2024.Results Five patients were misdiagnosed as having myasthenia gravis due to clinical manifestations such as ptosis of the eyelid,limb weakness,fatigue or aggravation after activity.Three patients underwent muscle biopsy due to the clinical manifestations of limb weakness and proximal weakness.Among them,two patients were misdiagnosed as muscular dystrophy and one patient was misdiagnosed as metabolic myopathy.One pa-tient underwent muscle biopsy due to the clinical manifestations of right eyelid ptosis,left limb weakness accompanied by muscle atrophy,and was misdiagnosed with marginal vacuolar myopathy.After admission,through detailed inquiry of the medical history and analysis of the characteristics of the onset,the Neostigmin test,detection of antibodies related to myasthenia gravis,electromy-ography and genetic testing were performed,and the diagnosis of CMS was confirmed.The misdiagnosis period ranged from 1 to 14 years.After diagnosis,corresponding treatments were given based on the types of gene mutations.The symptoms of 7 patients were relieved,while the effect on 2 patients was not obvious.After follow-up,no aggravation of symptoms was observed in all patients.Conclusion CMS is a rare neuromuscular junction disease.Its clinical manifestations are non-specific and it is prone to misdiag-nosis.Strengthening the understanding of CMS,enhancing vigilance,and attaching importance to the diagnostic value of med-ical history,electromyography and genetic testing can reduce or avoid misdiagnosis and mistreatment of this disease.关键词
先天性肌无力综合征/误诊/重症肌无力/肌营养不良/代谢性肌病/先天性肌病/肌电图/基因检测Key words
Congenital myasthenic syndromes/Misdiagnosis/Myasthenia gravis/Muscular dystrophies/Metabolic myopathy/Congenital myopathy/Electromyography/Gene testing分类
医药卫生引用本文复制引用
李文倩,于福达,乞国艳,孙璐,冯文静,杨瑛..先天性肌无力综合征临床特征及误诊原因分析[J].临床误诊误治,2025,38(13):16-20,5.基金项目
河北省卫生健康委员会项目(20241345) （20241345）
