COLQ基因突变致先天性肌无力综合征1例  

Congenital myasthenic syndrome due to COLQ gene mutation:report of a case

作　　者：张术词 张佳 刘振兴 祝新莉[2] 耿建红[3] 王炎强[3] ZHANG Shuci;ZHANG Jia;LIU Zhenxing;ZHU Xinli;GENG Jianhong;WANG Yanqiang(Affiliated Hospital of Weifang Medical University,Weifang 261000,China)

机构地区：[1]潍坊医学院附属医院(临床医学院),潍坊261000 [2]潍坊医学院附属医院电生理室 [3]潍坊医学院附属医院神经内二科

出　　处：《中国神经精神疾病杂志》2022年第10期624-628,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：鸢都学者与潍坊市重点实验室;山东省中医药科技发展计划项目(编号:2019-0432);山东省科技计划项目(编号:202003070377);潍坊市软科学研究计划(编号:2020RKX160)。

摘　　要：患者男,10岁,从1岁时开始出现波动性进展的运动后肢体无力,神经系统查体:双下肢近端肌力4级,双下肢平举小于5 s下落,单下肢平举小于10 s下落,髂腰肌肌力3级,肌张力减低。重复神经电刺激(repetitive nerve stimulation,RNS)示:低频刺激时波幅递减,四肢运动神经传导(motor conduction velocity,MCV)检查可见重复复合肌肉动作电位(repetitive compound muscle action potential,R-CMAP)。基因检测结果示COLQ基因存在c.393+1G>A和c.655G>A的杂合变异,经Sanger测序验证变异分别来自其父母,诊断为先天性肌无力综合征(congenital myasthenic syndrome,CMS)。予以沙丁胺醇治疗后,患者运动耐力较前增加。报告本例旨在增强临床医生对此疾病的认识,拓宽“肌无力”患者的诊断思路。c.655G>A错义变异既往无报告,可能是CMS的新致病位点。The patient was a 10-year-old male with limb weakness since one year of age.The symptoms fluctuated and progressed.Neurological examination findings were as follows:proximal muscle strength of both lower limbs was grade 4,both lower limb flat lift was less than 5 s drop,single lower limb flat lift was less than 10 s fall,iliopsoas muscle strength was grade 3,and muscle tone was reduced.Repeated electrical nerve stimulation showed that the amplitude decreased during low-frequency stimulation,and repeated compound muscle action potential(R-CMAP)could be seen in motor velocity(MCV)examination of limbs.Genetic testing showed heterozygous variants c.393+1G>A and c.655G>A in COLQ gene.After verified by Sanger sequencing to be from his parents,patient was diagnosed as having congenital myasthenic syndrome.After treatment with salbutamol treatment,patient’s exercise tolerance increased.The purpose of this report was to increase the awareness of this disease and broaden the diagnostic thinking of"myasthenia"among clinicians.c.655G>A missense variant has not been reported previously which may be a novel pathogenic site of CMS.

关 键 词：先天性肌无力综合征 重复神经电刺激 低频递减 重复复合肌肉动作电位 COLQ基因 终板乙酰胆碱酯酶缺乏 鉴别诊断 

分 类 号：R746[医药卫生—神经病学与精神病学]