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Updated: Feb 7, 2026
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy
Eugenio Zapata-Aldana1, Delia Ceballos-Sáenz1, Rhiannon Hicks1
1Division of Pediatric Neurology, Children's Hospital London Health Science Centre London, ON, Canada.
Insights
Congenital myotonic dystrophy (CDM) presents severe neonatal complications like feeding and respiratory issues. Long-term, respiratory tract infections are the most common morbidity in affected children.
Area of Science:
- Pediatric Neurology
- Genetics
- Neonatology
Background:
- Congenital myotonic dystrophy (CDM) is the most severe form of Myotonic Dystrophy type 1, presenting at birth.
- While perinatal issues are known, long-term complications of CDM require further documentation.
Purpose of the Study:
- To prospectively describe prenatal, neonatal, and infancy features of CDM.
- To compare findings with existing literature on CDM case series.
Main Methods:
- A 5-year prospective cohort study of CDM cases via the Canadian Pediatric Surveillance Program.
- Inclusion criteria identified 38 eligible patients.
- Comparative analysis with literature published between 1992 and 2016.
Main Results:
- Polyhydramnios (58%), feeding therapy (77%), and intubation/ventilation (58%) were frequent perinatal features.
- Neonatal mortality occurred in 16% of cases.
- Respiratory tract infections were the most common long-term morbidity.
Conclusions:
- This study provides a detailed description of perinatal features and early childhood mortality/morbidity in CDM.
- The findings contribute essential knowledge to understanding the natural history of congenital myotonic dystrophy.
Background:
Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented.
Objective:
Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM.
Methods:
A 5-year cohort of CDM eligible cases was conducted via the Canadian Pediatric Surveillance Program. 38 patients met the inclusion criteria. Comparison to other CDM case series published in the literature between 1992 and 2016 about perinatal and infancy morbidity.
Result:
From a total of 118 cases, the most frequent features were Polyhydramnios (58%), feeding therapy (77%), intubation and ventilation (58%); neonatal death was reported in 16% of the cases; the most frequent long-term morbidity were respiratory tract infections.
Conclusions:
We performed a detailed description of the main perinatal features of CDM and precise documentation of the mortality and morbidity during the first five years of life. This is an essential step in the knowledge of the natural history of CDM.
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