Fig 1.
Patient selection of DM-Scope registry.
Fig 2.
Design of cross-sectional observational study and respective contribution of three national databases: DM-Scope, FDM-S, PMSI Relevant clinical and epidemiological data from French DM1 adult patients (n = 1409), enrolled in DM-Scope registry, were compared to two complementary independent databases, AFM French DM1 survey of patients health and medical care (FDM-S, n = 970 patients) and the National Health Service Database (PMSI, n = 3301), according to similar criteria (age>18y, standardized nationwide collection).
Analyses focused on gender effect as a modifying factor of DM1 clinical phenotype, socio-economic status, morbidity and mortality.
Fig 3.
CTG repeat expansion size in male and female individuals according to DM1 clinical forms.
Analyses assessed robustness of the conventional age of onset-based classification of DM1 with regard to the triplet expansion size. Inside each clinical form, no difference in CTG expansion size was observed between male and female groups. Performed tests: multiple comparison of mean (non parametric Kruskal Wallis test and post hoc test; * p<0.05, ** p<0.001, ***p<0.0001).
Table 1.
Characteristics of patients in the DM-scope registry.
Table 2.
Gender effect on disease transmission and CTG expansion.
Fig 4.
Gender impact on severity of symptoms expressed as risk ratio on 95% confidence interval.
This diagram represents the gender relative risk ratio value for each symptom with its 95% confidence interval (segment). A risk ratio is significant if the confidence interval does not cross the vertical line at value 1. The width of confidence interval depends on estimate standard deviation and consequently on observations number.
Table 3.
Comparison of most disabling symptoms in FDM-S to DM-Scope registry related findings.