Case 06 (2025): Two cases of congenital myotonic dystrophy
10.3760/cma.j.cn113903-20241128-00791
- VernacularTitle:病例06（2025）：先天型强直性肌营养不良2例
- Author:
Heng LI
1
;
Xiaoming LYV
;
Hui WU
;
Wei XU
;
Xiaowei YU
;
Linjiao CHEN
Author Information
1. 吉林大学第一医院儿童医院新生儿科，长春 130021
- Publication Type:Journal Article
- Keywords:
Congenital myotonic dystrophy;
DMPK gene;
Talipes equinovarus
- From:
Chinese Journal of Perinatal Medicine
2025;28(4):326-331
- CountryChina
- Language:Chinese
-
Abstract:
This article reported two cases of congenital myotonic dystrophy. Case 1 was a premature infant born at 35 weeks of gestation, with severe asphyxia as the initial manifestation. After admission, the infant had limited spontaneous activity, low muscle tone, weak spontaneous respiration, inability to swallow independently, and bilateral talipes equinovarus. The initial diagnosis was neonatal hypoxic-ischemic encephalopathy. However, clinical observation suggested the possibility of other diseases and genetic testing indicated that the number of CTG trinucleotide repeats in the DMPK gene was>150 times, suggesting a high possibility that the child's mother was also affected, but remained undiagnosed due to lack of testing. Case 2 was a full-term infant born at 37 weeks and 1 day of gestation, who presented with asphyxia and dyspnea initially. It also presented with limited spontaneous activity, low muscle tone, weak respiration, and bilateral talipes equinovarus, which was highly similar to the clinical situation of Case 1. The genes of the child and his mother were tested, and the results showed that the number of CTG trinucleotide repeats in the DMPK gene was >150 times for both. Both children died within a few hours after being discharged from the hospital due to the family's decision to abandon treatment.
