表现为急性呼吸衰竭的强直性肌营养不良1型一例  

A Case Report of Myotonic Dystrophy Type 1 Presenting as Acute Respiratory Failure

作　　者：王奕琪[1] 林洁 奚剑英 罗苏珊 郑艳鹛[2] 赵重波 WANG Yiqi;LIN Jie;XI Jianying;LUO Sushan;ZHENG Yanmei;ZHAO Chongbo(Department of Neurology,Zhejiang Provincial People′s Hospital,Hangzhou 310014,China;Department of Obstetrics,Zhejiang Provincial People′s Hospital,Hangzhou 310014,China;Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]浙江省人民医院神经内科,杭州310014 [2]浙江省人民医院产科,杭州310014 [3]复旦大学附属华山医院神经内科,上海200040

出　　处：《罕见病研究》2024年第2期232-236,共5页Journal of Rare Diseases

摘　　要：强直性肌营养不良1型(DM1)是一种常染色体显性遗传、多系统受累的肌营养不良,临床上主要表现为进行性肌肉无力、肌肉萎缩及肌强直。本文报道一例以急性呼吸衰竭为主要表现就诊的33岁DM1女性患者。神经电生理提示肌源性损害合并部分神经源性损害,股外侧肌活检提示肌细胞存在大量核内移。基因检测提示19号染色体DMPK基因CTG重复扩增(847±76)次,从而明确诊断为DM1。本例报道拓宽了临床医师对DM1不典型临床表现的认识,从而避免漏诊误诊。Myotonic dystrophy type 1(DM1)is a multisystem trinucleotide repeat expansion disorder usually referred to the department of neurology with complaints of progressive muscle weakness and myotonia.This article reported a 33yearold female patient with DM1 presenting with acute respiratory failure.Muscle biopsy in vastus lateralis showed significantly increased internal nuclei.Genetic test show CTG repeat expansions with the size of(847±76)in dystrophia myotonica protein kinase(DMPK)gene on chromosome 19.This case report broadens the clinician′s understanding of the atypical clinical manifestations of DM1,so as to avoid missed diagnosis and misdiagnosis.

关 键 词：罕见病 强直性肌营养不良 呼吸衰竭 强直性肌营养不良蛋白激酶 

分 类 号：R746.2[医药卫生—神经病学与精神病学]