强直性肌营养不良1型肌肉症状与特征性血清学指标分析  

Analysis of muscle symptoms and characteristic serological evidences of myotonic dystrophy type 1.

作　　者：向栩莹 孙洲 陈晓露 孙沁 钟玉馨 曹非[1] XIANG Xuying;SUN Zhou;CHEN Xiaolu;SUN Qin;ZHONG Yuxin;CAO Fei(Department of Neurology,Union Hospital Affiliated with Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei Province,430022)

机构地区：[1]华中科技大学同济医学院附属协和医院神经内科,武汉430022

出　　处：《中国神经精神疾病杂志》2020年第8期449-454,共6页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的研究强直性肌营养不良1型(myotonic dystrophy,DM)患者的肌肉症状及特征性血清学指标,发现其目前较少关注的临床特征,为DM1与其他肌强直性综合征疾病的的初步鉴别提供线索。方法对武汉市区2018年1月至2019年11月间经DMPK基因检测诊断DM1的患者,采取随机抽样法得到21例进行症状的分析,对2013年1月至2019年11月间于华中科技大学同济医学院附属协和医院住院,并诊断为DM1的11例患者进行临床资料搜集,讨论临床患者肌肉症状特点,探究DM1患者的血清学检测中较其他肌病相对特异的指标。结果 21例基因检测患者中,首发症状为肌强直者11例,肌无力者10例,肌萎缩者3例;住院患者11例,行血电解质检测10例,其中血钠或血钾水平异常6例;行血免疫球蛋白G检测5例,其中血免疫球蛋白G降低者4例。结论肌强直是DM1较为常见的首发临床表现,血免疫球蛋白G水平降低,血钠及血钾升高为DM1特征性血清学指标。Objective To study the muscular symptom,the characteristic serological index and neglected clinical features of the patients with the myotonic dystrophy type 1(DM1)to provide a clue to preliminarily differentiate the DM1 and other myotonic syndrome.Methods The symptoms of 21 patients diagnosed with DM1 by DMPK gene detection in Wuhan from January 2018 to November 2019 were analyzed by random sampling.The clinical data of 11 patients diagnosed as DM1 in Union Hospital Affiliated with Tongji Medical college of Huazhong University Of Science and Technology from January 2013 to November 2019 were collected.The characteristics of muscle symptoms of patients diagnosed by gene were delineated and the relatively characteristic indexes in serological detection of DM1 patients compared with other myotonic syndromes were explored.Results Eleven of total twenty-one DM1 cases had myotonia;six of ten cases with blood electrolyte test had abnormal blood sodium or potassium and four of five cases with plasma immunoglobulin G test had a decrease in plasma immunoglobulin G decreased.Conclusion The myotonia is a common first-episode clinical presentation of DM1.Decreased plasma immunoglobulin Glevel,elevated blood sodium and potassium can be used as characteristic serological indexes of DM1.

关 键 词：强直性肌营养不良1型 肌强直 血电解质 血免疫球蛋白 

分 类 号：R746.2[医药卫生—神经病学与精神病学]