PDF(3130 KB)
PDF(3130 KB)
PDF(3130 KB)
脊髓性肌萎缩康复治疗进展
Advances in rehabilitation of spinal muscular atrophy
脊髓性肌萎缩(spinal muscular atrophy,SMA)是一种常染色体隐性遗传的神经肌肉疾病,其康复治疗需基于疾病分型与功能障碍特征来制定个体化方案。本文系统梳理了近年来SMA患者呼吸、运动及吞咽3大功能障碍的康复评定与治疗研究进展。在呼吸功能方面,重点介绍了肺功能测试、膈肌超声与睡眠监测等评定手段,以及无创通气等应用技术;在运动功能方面,总结了各类功能量表、肌肉超声和体能测试等评定工具,并分析了不同运动能力患者的康复策略,包括力量训练、机器人辅助训练及神经调控技术等;在吞咽功能方面,探讨了视频荧光吞咽功能检查、纤维内镜吞咽评定和口腔压力测量等评定方法,以及功能训练和代偿策略等治疗手段。本文旨在为临床康复实践提供基于精准评定的康复干预依据,并指出未来研究应聚焦多模态生物标志物的临床应用与家庭康复技术的转化,以优化康复效果,提升患者生活质量。
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder whose rehabilitation requires individualized strategies based on disease subtype and functional impairment. This review systematically summarizes recent advances in the assessment and rehabilitation of respiratory, motor and swallowing dysfunctions in patients with SMA. For respiratory dysfunction, the techniques such as pulmonary function tests, diaphragmatic ultrasound and sleep monitoring, along with interventions including non-invasive ventilation, were evaluated. For motor function, various assessment tools such as functional scales, muscle ultrasound and physical fitness tests were summarized. Additionally, rehabilitation strategies for patients with different motor abilities were analyzed, including strength training, robot-assisted training and neuromodulation techniques. For swallowing function, the assessment methods such as videofluoroscopic swallowing examination, fiberoptic endoscopic evaluation of swallowing and oral pressure measurement, as well as therapeutic approaches including functional training and compensatory strategies, were examined. This review aims to provide an evidence-based framework for rehabilitation and suggests that future research should focus on the clinical translation of multimodal biomarkers and home-based rehabilitation technology to optimize the outcomes and enhance the quality of life.
Spinal muscular atrophy / Rehabilitation assessment / Rehabilitation therapy / Dysfunction
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