Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes

CDM should be considered in neonates presenting with unexplained birth asphyxia, hypotonia, and feeding or respiratory difficulties, especially when accompanied by maternal polyhydramnios and reduced fetal movement. Genetic testing enables early diagnosis and intervention.

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Publication Details

Journal
Frontiers in Pediatrics
Published
2026-01-08
DOI
https://doi.org/10.3389/fped.2025.1648611
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes

Shenggang Ding, Qian Zhao, Yang Wang, Shupeng Wang
Frontiers in Pediatrics
Genetic Neurodegenerative Diseases
article

Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes

Shenggang Ding, Qian Zhao, Yang Wang, Shupeng Wang
article en

Abstract

CDM should be considered in neonates presenting with unexplained birth asphyxia, hypotonia, and feeding or respiratory difficulties, especially when accompanied by maternal polyhydramnios and reduced fetal movement. Genetic testing enables early diagnosis and intervention.

Frontiers in PediatricsVol. 13
Anhui Medical University (CN), First Affiliated Hospital of Anhui Medical University (CN)
Good health and well-being
Openalex Percentile: Top 95%
Genetic Neurodegenerative Diseases
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