Analysis of Clinical Characteristics and Causes of Misdiagnosis of Congenital Myasthenic Syndromes
LI Wenqian
YU Fuda
QI Guoyan
SUN Lu
FENG Wenjing
YANG Ying
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.
Keywords：Congenital myasthenic syndromesMisdiagnosisMyasthenia gravisMuscular dystrophiesMetabolic myopathyCongenital myopathyElectromyographyGene testing
Publication Date：2025-07-13
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 16-20 )