Related Experiment Video
Updated: Mar 26, 2026
09:39
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
16.1K
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide
Celine Dogan1, Marie De Antonio1,2, Dalil Hamroun3
1Neuromuscular Reference Center, GH Henri Mondor, AP-HP, Créteil, France, INSERM U955, UPEC university, Créteil, France.
Plos One
|February 6, 2016
Summary
Gender significantly impacts Myotonic Dystrophy type 1 (DM1) presentation and outcomes. Males experience more severe muscular, cardiac, and respiratory issues, greater socio-economic burden, and higher mortality than females.
Area of Science:
- Neurology
- Genetics
- Clinical Medicine
Background:
- Myotonic Dystrophy type 1 (DM1) is a heterogeneous hereditary disorder.
- CTG expansion size influences onset but not precise prognosis.
- Gender-specific differences in DM1 have not been well-documented.
Purpose of the Study:
- To investigate the impact of gender on the clinical phenotype and severity of DM1.
- To identify gender-specific patterns in DM1 manifestations and outcomes.
Main Methods:
- Cross-sectional analysis of clinical parameters in 1409 adult DM1 patients from the DM-Scope registry.
- Assessment of social/economic impact using the AFM-Téléthon DM1 survey (n=970).
- Evaluation of morbidity and mortality using French National Health Service data (n=3301).
Main Results:
- Males exhibited more severe muscular disability, myotonia, cardiac/respiratory involvement, developmental abnormalities, and cognitive impairment.
- Females more frequently presented with cataracts, dysphagia, digestive dysfunction, incontinence, thyroid disorders, and obesity.
- Males faced greater socio-economic challenges, higher cardiac hospitalization rates, and increased mortality compared to females.
Conclusions:
- Gender is a critical, previously unrecognized factor influencing DM1 clinical profile and disease severity.
- Males experience disproportionately worse socio-economic consequences, higher morbidity, and mortality.
- Consideration of gender is essential for stratified medical management and clinical trial design in DM1.
