Abstract：
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.
摘要：
这项回顾性和前瞻性研究旨在探讨脊柱侧凸之间的关系，脊柱骨矿物质密度（BMD），家族性自主神经障碍（FD）患者的躯干肌力。共有79例FD患者（男性40例，包括39名女性），年龄在5-44岁之间。脊柱侧凸的严重程度,腰椎BMD（Z评分），和躯干肌力进行评估。相关性分析采用皮尔逊相关系数。脊柱侧凸严重程度与BMD呈负相关(r=-0.328,p=0.001),正如随着骨质疏松症恶化，Z-得分值逐渐增加所表明的那样。脊柱侧凸与躯干肌力之间也存在负相关关系（r=-0.595，p<0.001）。脊柱侧凸与年龄在22岁以下有显著的相关性(r=0.421,p=0.01),但不在老年组（22-44岁）。我们的研究确定了骨质疏松症和脊柱侧凸之间的负相关，以及脊柱侧凸和躯干肌力之间，FD患者。这些发现表明，骨密度之间可能存在关系，肌肉力量,以及该人群脊柱弯曲的严重程度。虽然我们的研究结果突出了早期诊断和治疗骨质疏松症的潜在重要性，可能还有物理治疗增强躯干肌肉的好处，需要进一步的研究来确定这些干预措施对预防FD患者脊柱侧凸及其相关并发症进展的直接影响.长期的纵向研究可以为这些关系提供更多的见解，并为FD患者提供治疗策略。
