- 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
2
;
Jianying XI
2
;
Sushan LUO
2
;
Yanmei ZHENG
3
;
Chongbo ZHAO
2
Author Information
- Publication Type:Journal Article
- 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 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.