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

王奕琪 ¹林洁 ²奚剑英 ²罗苏珊 ²郑艳鹛 ³赵重波²

扫码查看

作者信息

1. 浙江省人民医院神经内科,杭州 310014
2. 复旦大学附属华山医院神经内科,上海 200040
3. 浙江省人民医院产科,杭州 310014
折叠

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.

Abstract

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 33-year-old female patient with DM1 presenting with acute respiratory failure.Muscle bi-opsy 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

Key words

rare diseases/myotonic dystrophy/respiratory failure/dystrophia myotonica protein kinase

引用本文复制引用

出版年

2024

罕见病研究

CSTPCD

ISSN：

参考文献量17

段落导航