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结蛋白相关肌原纤维肌病康复一例
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Abstract:
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。
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.
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