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.
Authors
- Shenggang Ding
- Qian Zhao
- Yang Wang
- Shupeng Wang
Institutions
- Anhui Medical University (CN)
- First Affiliated Hospital of Anhui Medical University (CN)
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