强直性肌营养不良1型的临床特征和遗传学特点(附1家系报告)  

Clinical and genetic characteristics of myotonic dystrophy type 1(report of one family)

作　　者：瞿睿思 谈心 邬欣 陈周青 王中[3] 刘美蓉[2] QU Ruisi;TAN Xin;WU Xin(Clinical Medicine(“5+3”integrative model,Pediatric Medicine)of Suzhou Medical College of Soochow University,215123 Soochow,China)

机构地区：[1]苏州大学苏州医学院,215123 [2]苏州大学附属第一医院神经内科 [3]苏州大学附属第一医院神经外科

出　　处：《临床神经病学杂志》2024年第2期113-119,共7页Journal of Clinical Neurology

基　　金：苏州医学院学生课外科研项目(2022YXYKWKY059)。

摘　　要：目的探讨强直性肌营养不良1型(DM1)的临床特征和遗传学特点。方法对苏州大学附属第一医院2023年5月收治的DM1患者及其家系成员进行体格检查、EMG、肌肉活检和基因检测等检查,绘制家系系谱图,分析该家系患者临床特征和遗传表现。结果该家系共9人,其中DM1患者2例,存在遗传早现现象。2例DM1患者均有肌强直、肌无力等典型症状,伴有CNS、心脏、内分泌等多系统受累,EMG可见特征性大量肌强直电位出现,先证者行肌肉活检结果可见典型强直性肌营养不良伴镶边空泡病理改变,基因检测发现其DMPK基因均存在CTG三核苷酸大量重复扩增现象,给予奥卡西平治疗有效。结论DM1是以肌强直、肌无力为典型症状,伴有CNS、心脏、内分泌等多系统受累的遗传病,EMG、肌肉活检和基因检测可帮助确诊DM1,肌肉病理中伴镶边空泡少见,奥卡西平能改善肌强直症状。Objective To investigate the clinical and genetic characteristics of myotonic dystrophy type 1(DM1).Methods A DM1 patient and his family members admitted to the First Affiliated Hospital of Soochow University in May 2023 were examined by physical examination,EMG,muscle biopsy and genetic detection,and the family pedigree was drawn to analyze the clinical characteristics and genetic manifestations of the patients.Results There were 9 members in this family,2 of whom were suffering from DM1,and there was a phenomenon of genetic anticipation.Both patients with DM1 had typical symptoms such as myotonia and myasthenia,accompanied by involvement of multiple systems such as the central nervous system,heart,and endocrine system.The electromyogram showed characteristic myotonic potentials.Muscle biopsy of the proband showed typical myotonic dystrophy with rimmed vacuoles.Genetic detection found that their DMPK genes both had a large number of CTG trinucleotide repeat expansions.Oxcarbazepine treatment is effective.Conclusions DM1 is a genetic disease with typical symptoms of myotonia and myasthenia gravis,accompanied by involvement of central nervous system,heart,endocrine and other systems.Electromyography,muscle biopsy and gene detection can help to diagnose DM.Rimmed vacuoles are rare in muscle pathology.Oxcarbazepine can improve the symptoms of myotonia.

关 键 词：强直性肌营养不良 肌肉病理 DMPK基因 案例报告 

分 类 号：R746.2[医药卫生—神经病学与精神病学]