Delaware Center for Neuroscience Research, Delaware State University, Dover, DE, USA.
Department of Biological Sciences, Delaware State University, Dover, DE, USA.
J Neuromuscul Dis. 2023;10(5):847-867. doi: 10.3233/JND-230011.
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 causing 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.
Systematically investigate sex differences in the incidence, symptom severity, motor function of patients with different types of SMA, and in the development of SMA1 patients.
Aggregated data of SMA patients were obtained from the TREAT-NMD Global SMA Registry and the Cure SMA membership database by data enquiries. Data were analyzed and compared with publicly available standard data and data from published literature.
The analysis of the aggregated results from the TREAT-NMD dataset revealed that the male/female ratio was correlated to the incidence and prevalence of SMA from different countries; and for SMA patients, more of their male family members were affected by SMA. However, there was no significant difference of sex ratio in the Cure SMA membership dataset. As quantified by the clinician severity scores, symptoms were more severe in males than females in SMA types 2 and 3b. Motor function scores measured higher in females than males in SMA types 1, 3a and 3b. The head circumference was more strongly affected in male SMA type 1 patients.
The data in certain registry datasets suggest that males may be more vulnerable to SMA than females. The variability observed 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.
性别是许多神经退行性疾病的重要风险因素。更好地了解性别差异背后的分子机制有助于开发更有针对性的治疗方法，从而获得更好的治疗效果。未治疗的脊髓性肌萎缩症（SMA）是导致婴儿死亡的主要遗传性运动障碍。SMA 具有广泛的严重程度范围，从产前死亡到婴儿死亡，再到正常寿命并伴有一定程度的残疾。零星的证据表明 SMA 存在性别特异性易感性。然而，性别作为 SMA 病理和治疗的风险因素，尚未得到充分关注。
系统研究不同类型 SMA 患者的发病率、症状严重程度、运动功能，以及 SMA1 患者发病情况的性别差异。
通过数据查询，从 TREAT-NMD 全球 SMA 注册中心和 Cure SMA 会员数据库中获取 SMA 患者的汇总数据。对数据进行分析，并与公开可用的标准数据和已发表文献中的数据进行比较。
对 TREAT-NMD 数据集汇总结果的分析表明，男性/女性比例与不同国家 SMA 的发病率和患病率相关；对于 SMA 患者，其更多的男性家庭成员受到 SMA 的影响。然而，在 Cure SMA 会员数据库中，性别比例没有显著差异。根据临床医生严重程度评分，SMA 2 型和 3b 型男性患者的症状比女性患者更严重。SMA 1 型、3a 型和 3b 型女性患者的运动功能评分高于男性患者。男性 SMA 1 型患者的头围受影响更严重。
某些注册数据集的数据表明，男性可能比女性更容易受到 SMA 的影响。观察到的变异性表明，需要进一步研究以充分了解性别差异在 SMA 流行病学中的作用，并指导更有针对性的治疗方法的开发。
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