This combined retrospective and prospective study aimed to investigate the relationship between scoliosis, spinal bone mineral density (BMD), and truncal muscle strength in patients with familial dysautonomia (FD). A total of 79 FD patients (40 male, 39 female) aged 5–44 years were included. The severity of scoliosis, lumbar spine BMD (Z-score), and truncal muscle strength were assessed. Correlations were analyzed using Pearson's correlation coefficient. Inverse correlations were observed between scoliosis severity and BMD (r = − 0.328, p = 0.001), as indicated by increasingly negative Z-score values with worsening osteoporosis. There were also inverse correlations between scoliosis and truncal muscle strength (r = − 0.595, p < 0.001). The correlation between scoliosis and age was notable up to 22 years (r = 0.421, p = 0.01), but not in the older age group (22–44 years). Our study identified inverse correlations between osteoporosis and scoliosis, as well as between scoliosis and truncal muscle strength, in FD patients. These findings suggest that there may be a relationship between bone density, muscle strength, and the severity of spinal curvature in this population. While our results highlight the potential importance of early diagnosis and management of osteoporosis, and possibly the benefits of physical therapy to strengthen truncal muscles, further research is needed to determine the direct impact of these interventions on preventing the progression of scoliosis and its associated complications in FD patients. A long-term longitudinal study could provide more insights into these relationships and inform treatment strategies for FD patients.

这项回顾性和前瞻性相结合的研究旨在调查家族性自主神经功能障碍 (FD) 患者的脊柱侧弯、脊柱骨矿物质密度 (BMD) 和躯干肌力量之间的关系。共有 79 名 FD 患者（40 名男性，39 名女性），年龄 5-44 岁。评估脊柱侧弯的严重程度、腰椎 BMD（Z 评分）和躯干肌肉力量。使用皮尔逊相关系数分析相关性。脊柱侧凸严重程度与 BMD 之间观察到负相关（r  = − 0.328，p  = 0.001），随着骨质疏松症恶化，Z 得分负值逐渐增加，表明这一点。脊柱侧弯和躯干肌肉力量之间也存在负相关（r  = − 0.595，p  < 0.001）。脊柱侧凸与年龄之间的相关性在 22 岁之前都很显着（r  = 0.421，p  = 0.01），但在较大年龄组（22-44 岁）中则不然。我们的研究发现，FD 患者的骨质疏松症与脊柱侧凸之间以及脊柱侧凸与躯干肌肉力量之间呈负相关。这些发现表明，该人群的骨密度、肌肉强度和脊柱弯曲的严重程度之间可能存在关联。虽然我们的结果强调了骨质疏松症早期诊断和治疗的潜在重要性，以及物理治疗可能对增强躯干肌肉的益处，但还需要进一步的研究来确定这些干预措施对预防脊柱侧弯及其相关并发症进展的直接影响。 FD患者。长期纵向研究可以更深入地了解这些关系，并为 FD 患者的治疗策略提供信息。