What is it about?
Sex is a significant risk factor in many neurodegenerative disorders. A better understanding of the molecular mechanisms behind sex differences could help develop more targeted therapies that would lead to better outcomes. Untreated spinal muscular atrophy (SMA) is the leading genetic motor disorder for infant mortality. SMA has a broad spectrum of severity ranging from prenatal death to infant mortality to normal lifespan with some disability. Scattered evidence points to a sex-specific vulnerability in SMA. However, the role of sex as a risk factor in SMA pathology and treatment has received limited attention. This study systematically investigated sex differences in sex ratio, symptom severity, motor function of different types of SMA patients, and in the development of SMA1 patients from the aggregated data of the TREAT-NMD Global SMA Registry and Cure SMA membership database by data enquiries. .
Why is it important?
The analysis of the aggregated results from the data revealed that male/female ratio was correlated to the incidence and prevalence of SMA, and for SMA patients, more of their male family members were affected by SMA. These data suggest that males may be more vulnerable to SMA than females in certain populations. This study indicates that more investigation is necessary to fully understand the role of sex differences in SMA epidemiology, and to guide development of more targeted treatments.