AANEM News Express

AANEM News Express

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality

Felix Rougier et al. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. PLOS ONE DOI:10.1371/journal.pone.0148264 
Submitted by Carolina Garcia, MD, News Science Editorial Board
This is a cross sectional study of the French DM-Scope nationwide registry of adult DM1 patients (1409 patients of which 660 were men and 749 were women). Two other databases of patients with type 1 myotonic dystrophy were used to confirm the observations. These were the French DM1 patient survey (FDM-S) and the French National Health Service Database (PMSI). The objective of this study was to determine if gender is an influencing factor of phenotype severity, morbidity, and mortality. Several parameters including strength (using a converted 11 point MRC scale), severity of myotonia (time to open hand after contraction of or greater than 3 seconds), respiratory failure, cardiac conduction block, abnormal ECG, dysphagia, body mass index, among others were evaluated. The authors found that men were more likely to have developmental/educational abnormalities, severe myotonia, cardiac and respiratory involvement, and muscle weakness compared to women. Women had a higher risk of cataracts, dysphagia, digestive tract dysfunction, incontinence, thyroid disorder, and obesity. The analysis of the two additional databases (which had 970 and 3301 patients respectively) confirmed these findings (p<0.0001 to <0.01). Of interest in the FDM-S, 45% of men and 37% of women with DM1 had conduction abnormalities. This complemented the finding of 44.4% of men and 37.7% of women who had ECG abnormalities seen in the DM-Scope nationwide registry.
Comment: This study showed that there are gender differences in the phenotype of myotonic dystrophy type 1 that can be taken into consideration in sex-oriented care, risk stratification and for the future development of clinical trials.

About the AANEM News Science Editorial Board
The board helps to highlight significant, timely science news items for AANEM members. It reviews articles in journals and websites, identifies newsworthy items in the field, and writes article summaries.

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