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Abstract：
Introduction: Spinal muscular atrophy (SMA) is a genetically determined disease primarily leading to muscle weakness, but now, it is considered a systemic disease with changes in various tissues and organs. In our study, we aimed to compare quality of life (QoL) outcomes in patients with SMA in relation to the degree of motor limitation and comorbidities, mainly internal medicine diseases. Methods: We included 35 adult patients with SMA and 36 healthy volunteers. Thorough medical histories were taken focusing on comorbidities, and neurological examinations incorporating assessments using functional motor scales were performed. QoL was assessed based on the World Health Organization Quality of Life Brief Version (WHOQOL-BREF) questionnaire. Results: SMA patients and controls were comparable in terms of scores in the questionnaire\'s main domains. SMA patients presented significantly higher levels of satisfaction with their medical care than controls. Patients with more advanced SMA had significantly better scores on certain questions, e.g., those related to health satisfaction or leisure activities. A total of 71.4% of SMA patients had comorbidities, ranging from one to three in individual patients. SMA patients with comorbidities did not show worse QoL. Negative correlations were found between the number of comorbidities in SMA patients and individual questions on the WHOQOL-BREF questionnaire. Conclusions: Patients with SMA were satisfied with their medical care. Better scores on some questions in more advanced SMA may have been due to better adaptation to disease-related limitations. The presence of single comorbidities did not affect QoL, but a higher number of comorbidities negatively correlated with QoL.
摘要：
简介：脊髓性肌萎缩症（SMA）是一种遗传决定的疾病，主要导致肌肉无力，但是现在,它被认为是一种全身性疾病，在各种组织和器官中都有变化。在我们的研究中,我们旨在比较SMA患者的生活质量（QoL）结局与运动受限程度和合并症的关系，主要是内科疾病。方法：我们纳入了35例成年SMA患者和36例健康志愿者。彻底的病史集中在合并症上，进行了神经系统检查，并使用功能运动量表进行评估。QoL是根据世界卫生组织生活质量简报版（WHOQOL-BREF）问卷进行评估的。结果：SMA患者和对照组在问卷主要领域的得分方面具有可比性。SMA患者对医疗护理的满意度明显高于对照组。患有更高级SMA的患者在某些问题上的得分明显更好，例如，那些与健康满意度或休闲活动有关的。共有71.4%的SMA患者有合并症，从一到三个在个别患者。有合并症的SMA患者没有表现出更差的QoL。SMA患者的合并症数量与WHOQOL-BREF问卷上的个人问题之间存在负相关。结论：SMA患者对其医疗护理满意。在更高级的SMA中，某些问题的分数更高可能是由于对疾病相关限制的更好适应。单一合并症的存在并不影响QoL，但更多的合并症与QoL呈负相关。
