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脊髓性肌萎缩症患者的康复管理:综述

Rehabilitation management for patients with spinal muscular atrophy: a review.

作者信息

Song Wei, Ke Xiaohua

机构信息

Department of Rehabilitation Medicine, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai, China.

出版信息

Orphanet J Rare Dis. 2025 Jul 10;20(1):352. doi: 10.1186/s13023-025-03888-w.

DOI:10.1186/s13023-025-03888-w
PMID:40640932
Abstract

The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients' quality of life. Key components include motor function management, respiratory function support, swallowing function management, posture alignment, and the use of assistive devices. The various types of spinal muscular atrophy differ significantly in symptoms, progression rates, and severity, which poses unique challenges in rehabilitation management.

摘要

脊髓性肌萎缩症患者的康复管理是一个复杂的多学科过程,旨在减缓疾病进展、预防并发症并提高患者的生活质量。关键组成部分包括运动功能管理、呼吸功能支持、吞咽功能管理、姿势矫正以及辅助设备的使用。不同类型的脊髓性肌萎缩症在症状、进展速度和严重程度上有显著差异,这给康复管理带来了独特的挑战。

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本文引用的文献

1
Mechanisms of functional improvement behind nusinersen treatment in adult spinal muscular atrophy.诺西那生治疗成人脊髓性肌萎缩症后功能改善的机制
Exp Neurol. 2025 Jul;389:115230. doi: 10.1016/j.expneurol.2025.115230. Epub 2025 Apr 1.
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Advancing Rehabilitation Medicine with the Metaverse: Opportunities and Challenges.借助元宇宙推动康复医学发展:机遇与挑战
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3
Multiple respiratory assessment and thresholds for noninvasive ventilation in adult patients with spinal muscular atrophy.
成年脊髓性肌萎缩症患者的多次呼吸评估及无创通气阈值
Sci Rep. 2025 Feb 22;15(1):6478. doi: 10.1038/s41598-025-91276-6.
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Newborn screening programs for spinal muscular atrophy worldwide in 2023.2023年全球脊髓性肌萎缩症新生儿筛查项目
J Neuromuscul Dis. 2024 Nov;11(6):1180-1189. doi: 10.1177/22143602241288095.
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Therapeutic Scoliosis-Specific Exercises for a Child With Spinal Muscular Atrophy: A Case Report.针对一名脊髓性肌萎缩症患儿的脊柱侧弯特定治疗性锻炼:病例报告
Pediatr Phys Ther. 2025 Apr 1;37(2):282-287. doi: 10.1097/PEP.0000000000001188. Epub 2025 Feb 13.
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The association between gait speed and falls in ambulatory adults with spinal muscular atrophy: a retrospective pilot study.脊髓性肌萎缩症非卧床成人的步态速度与跌倒之间的关联:一项回顾性试点研究。
Front Neurol. 2024 Dec 4;15:1491466. doi: 10.3389/fneur.2024.1491466. eCollection 2024.
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Disparities in Access to, Use of, and Quality of Rehabilitation After Stroke in the United States: A Scoping Review.美国中风后康复服务的可及性、使用情况及质量差异:一项范围综述
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8
Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.脊髓性肌萎缩症成人的口腔功能与健康对照组比较:多模态前瞻性横断面研究。
Orphanet J Rare Dis. 2024 Oct 15;19(1):382. doi: 10.1186/s13023-024-03405-5.
9
Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.中国脊髓性肌萎缩症患者的康复治疗:一项全国性横断面研究。
Orphanet J Rare Dis. 2024 Jul 25;19(1):279. doi: 10.1186/s13023-024-03291-x.
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Beyond Motor Neurons in Spinal Muscular Atrophy: A Focus on Neuromuscular Junction.超越脊髓性肌萎缩症中的运动神经元:聚焦于神经肌肉接头。
Int J Mol Sci. 2024 Jul 3;25(13):7311. doi: 10.3390/ijms25137311.