结蛋白相关肌原纤维肌病康复一例
Rehabilitation for Desmin-Related Myofibrillar Myopathy Disease: A Case Report
DOI: 10.12677/acm.2026.161018, PDF,   
作者: 王鸿钰：绍兴文理学院医学院，浙江 绍兴；龚剑秋*：绍兴文理学院医学院，浙江 绍兴；绍兴文理学院附属第一医院，绍兴市人民医院康复医学中心，浙江 绍兴
关键词: 结蛋白相关肌原纤维肌病；DES基因；康复；Desmin-Related Myofibrillar Myopathy； DES Gene； Rehabilitation
摘要: 结蛋白相关肌原纤维肌病(DRM)是一种由结蛋白基因突变引起的遗传性肌病，以进行性肌肉无力和多系统受累为特征。本例报道一例病程呈典型进展模式的患者，进行康复干预，最终提升现有肌力、心肺运动耐力、生活自理能力。在本文中，我们旨在分析该病例的康复治疗方案，并强调对结蛋白相关肌原纤维肌病进行康复干预的重要性。
Abstract: Desmin-related myofibrillar myopathy (DRM) is an inherited myopathy caused by mutations in the desmin gene (DES), characterized by progressive muscle weakness and multi-system involvement. This article reports a case with a typical progression pattern, where rehabilitation interventions ultimately improved existing muscle strength, cardiopulmonary exercise endurance, and self-care ability. Herein, we aim to analyze the rehabilitation treatment plan for this case and emphasize the importance of rehabilitation interventions for desmin-related myofibrillar myopathy.
文章引用：王鸿钰, 龚剑秋. 结蛋白相关肌原纤维肌病康复一例[J]. 临床医学进展, 2026, 16(1): 124-128. https://doi.org/10.12677/acm.2026.161018

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