强直性肌营养不良一家系5例报告并文献复习  

Hereditary report on 5 cases of myotonic dystrophy and literature review

作　　者：张申 寿纪菲 杨朝燕 张帅 郭亚珂 ZHANG Shen;SHOU Jifei;YANG Chaoyan;ZHANG Shuai;GUO Yake(Department of Neurophysiology,Zhengzhou Central Hospital Affiliated to Zhengzhou University,Zhengzhou,Henan 450000,China)

机构地区：[1]郑州大学附属郑州中心医院神经电生理科,河南郑州450000

出　　处：《安徽医药》2023年第7期1346-1348,共3页Anhui Medical and Pharmaceutical Journal

基　　金：河南省医学科技攻关项目(2018020794)。

摘　　要：目的探讨强直性肌营养不良1型(DM1)一家系的临床表现和遗传学特点。方法对郑州大学附属郑州中心医院2019年4月收治的该家系部分成员进行体格检查、血生化、肌电图和基因检测等检查,绘制家族系谱图,分析该家系的临床特点。结果该家系共12人,其中5人为强直性肌营养不良(myotonic dystrophy,DM)病人,存在明显的遗传早现现象。5例DM病人均为慢性病程,以肌无力、肌强直为主要表现,伴心脏、内分泌、呼吸等多系统受累,肌电图可见特征性肌强直放电和肌源性损害,血清肌酶轻度增高或正常。结论DM主要以肌强直、肌无力、肌萎缩为主要表现的多系统受累疾病,临床表现复杂多样,肌电图、病理活检和基因检测有助于诊断和分型。0bjective To investigate the clinical and genetic characteristics of a family with myotonic dystrophy type 1(DM1).Methods Physical examination,blood biochemistry,electromyography and gene test,were performed on some members of the family admitted to the Zhengzhou Central Hospital Affiliated to Zhengzhou University in April 2019 to draw a family pedigree map and analyze the clinical characteristics of the family.Results There were 12 members in this family,5 of whom were patients with myotonic dystrophy(DM).Five patients with DM had a chronic course of disease,characterized by myasthenia and myotonia,accompanied by cardiac,endocrine and respiratory involvement.EMG showed characteristic myotonic discharge and myogenic damage,serum muscle enzymes were slightly elevated or normal.Conclusion The clinical manifestations of DM are complicated and varied.Electromyography,pathological biopsy and gene detection are helpful for the diagnosis and classification of DM.

关 键 词：营养不良性肌强直 染色体障碍 肌无力 苯妥英钠 基因检测 

分 类 号：R746.2[医药卫生—神经病学与精神病学]