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肢带型肌营养不良症:一项范围综述及当前可用康复策略概述

Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies.

作者信息

D'Este Giorgia, Spagna Mattia, Federico Sara, Cacciante Luisa, Cieślik Błażej, Kiper Pawel, Barresi Rita

机构信息

Neurobiology Lab, IRCCS San Camillo Hospital, Venice, Italy.

Healthcare Innovation Technology Lab, IRCCS San Camillo Hospital, Venice, Italy.

出版信息

Muscle Nerve. 2025 Feb;71(2):138-146. doi: 10.1002/mus.28284. Epub 2024 Oct 30.

Abstract

Limb-girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious. This review aims to provide an overview of the currently available motor rehabilitation strategies for the most common subtypes of LGMD. To identify relevant articles, we performed a systematic search in PubMed, Embase, Cochrane Library, and Web of Science, focusing on muscular and respiratory interventions. The search resulted in 560 potentially relevant articles, of which 16 were included in the review. Eight studies concentrated on neuromuscular functional rehabilitation therapy programs, seven combined both neuromuscular rehabilitation and interventions to maintain or enhance respiratory functionality and one focused on respiratory intervention only. Altogether, the papers examined offered a comprehensive view on the rehabilitative strategies available and provided an indication of the most valuable practices to deal with patients' health and needs. Upon analysis, we conclude that, when tailored to individual needs, muscle training can enhance strength and functional abilities, positively impacting psychological well-being. However, generic protocols may lead to limited benefits, fatigue, pain, and compliance issues. Moreover, early management of respiratory symptoms and personalized respiratory physiotherapy can enhance patients' well-being and their capability to participate in muscle training exercises. Future studies should not only refine rehabilitation approaches but also assess their impact on patients' quality of life, including psychological factors like depression and self-esteem.

摘要

肢带型肌营养不良症(LGMDs)是一组主要影响骨骼肌的遗传性疾病。尽管目前尚无治愈方法,但康复治疗为预防和减轻肌肉力量丧失提供了可能。然而,运动训练在LGMD患者中的作用仍存在争议。本综述旨在概述目前针对LGMD最常见亚型的运动康复策略。为了确定相关文章,我们在PubMed、Embase、Cochrane图书馆和科学网进行了系统检索,重点关注肌肉和呼吸方面的干预措施。检索结果有560篇可能相关的文章,其中16篇被纳入综述。八项研究集中在神经肌肉功能康复治疗方案,七项研究将神经肌肉康复与维持或增强呼吸功能的干预措施相结合,一项研究仅关注呼吸干预。总之,这些研究论文对现有的康复策略提供了全面的观点,并指出了应对患者健康和需求的最有价值的方法。经分析,我们得出结论,根据个体需求进行定制时,肌肉训练可以增强力量和功能能力,对心理健康产生积极影响。然而,通用方案可能导致益处有限、疲劳、疼痛和依从性问题。此外,早期管理呼吸症状和个性化呼吸物理治疗可以提高患者的幸福感及其参与肌肉训练运动的能力。未来的研究不仅应完善康复方法,还应评估其对患者生活质量的影响,包括抑郁和自尊等心理因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a27/11708444/24e5eafa79e9/MUS-71-138-g001.jpg

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