Bieniaszewska Aleksandra, Sobieska Magdalena, Gajewska Ewa
Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355, Poznan, Poland.
Department of Rehabilitation and Physiotherapy, Poznan University of Medical Sciences, 61-545, Poznan, Poland.
Sci Rep. 2025 Mar 28;15(1):10810. doi: 10.1038/s41598-025-95328-9.
In recent years, three disease-modifying therapies have been approved and fully reimbursed in Poland since September 2023. Those therapies have significantly improved the disease outcome but led to new uncertainties. Doubts mainly concern older patients who have already developed complications occurring because of a lack of previous access to therapy. Joint contractures or trunk deformation are the most noticeable changes that should be examined. This work examines functional and structural changes in SMA sitter patients between the ages of 5 and 20 years during the 12-month follow-up. Twenty-one SMA patients were divided depending on the drug program in which they participated. The study protocol included functional and structural assessments. Most of the subjects experienced an improvement in cervical rotation parameter and increased contracture of the hip and knee joints. There are differences between the patients' body sides. Neither the contractures nor their gradual decrease or increase occur symmetrically. We conclude that all patients under study improved their motor function after 12 months. In both groups, more significant improvement occurred in the assessment of the RULM scale than in the HFMSE scale. Improvement in function was not dependent on improvement in structural parameters.
近年来，自2023年9月起，三种疾病修正疗法在波兰已获批并全额报销。这些疗法显著改善了疾病预后，但也带来了新的不确定性。疑虑主要涉及那些因之前无法获得治疗而已经出现并发症的老年患者。关节挛缩或躯干变形是最明显的变化，需要进行检查。这项研究观察了年龄在5至20岁之间的脊髓性肌萎缩症（SMA）坐立患者在12个月随访期间的功能和结构变化。21名SMA患者根据他们所参与的药物方案进行分组。研究方案包括功能和结构评估。大多数受试者的颈椎旋转参数有所改善，髋部和膝关节挛缩增加。患者身体两侧存在差异。挛缩情况及其逐渐减轻或加重并非对称发生。我们得出结论，所有研究中的患者在12个月后运动功能均有所改善。在两组中，上肢功能评定量表（RULM）的评估改善比粗大运动功能测量扩展版（HFMSE）量表更为显著。功能的改善并不依赖于结构参数的改善。
