A Case Report of Myotonic Dystrophy Type 1 Presenting as Acute Respiratory Failure
10.12376/j.issn.2097-0501.2024.02.012
- VernacularTitle:表现为急性呼吸衰竭的强直性肌营养不良1型一例
- Author:
Yiqi WANG
1
;
Jie LIN
;
Jianying XI
;
Sushan LUO
;
Yanmei ZHENG
;
Chongbo ZHAO
Author Information
1. 浙江省人民医院神经内科,杭州 310014
- Keywords:
rare diseases;
myotonic dystrophy;
respiratory failure;
dystrophia myotonica protein kinase
- From:
JOURNAL OF RARE DISEASES
2024;3(2):232-236
- CountryChina
- Language:Chinese
-
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.
