Congenital myasthenic syndrome caused by COLQ gene mutations： A case report and literature review
10.19845/j.cnki.zfysjjbzz.2025.0105
- VernacularTitle:COLQ基因突变致先天性肌无力综合征1例报告并文献复习
- Author:
Chunhua TANG
1
;
Ying TAN
2
Author Information
1. 陆军军医大学陆军特色医学中心，重庆 400042;北京协和医院，北京 100730
2. 北京协和医院，北京 100730
- Publication Type:Journal Article
- Keywords:
Congenital myasthenic syndrome;
COLQ gene;
Repetitive compound muscle action potential;
Endplate acetylcholinesterase deficiency
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(6):554-557
- CountryChina
- Language:Chinese
-
Abstract:
Congenital myasthenic syndrome（CMS）is a group of neuromuscular transmission disorders caused by genetic defects，and it is characterized by an early age of onset，fatigable weakness of skeletal muscle，and a high disability rate，with respiratory failure as a common cause of death. Endplate acetylcholinesterase deficiency（EAD）caused by COLQ gene mutations is a subtype of CMS，and repetitive compound muscle action potential（R-CMAP）in nerve conduction examination is the key evidence for diagnosis. The heterogeneity of clinical phenotypes of CMS often leads to misdiagnosis or missed diagnosis，resulting in delayed treatment. This article reports a case of CMS caused by COLQ mutation and summarizes the pathogenesis，mechanisms，clinical manifestations，electrophysiological characteristics，differential diagnosis，treatment，and prognosis of the disease with reference to relevant literature，in order to improve the understanding of this subtype of CMS among clinicians.
