脊髓性肌萎缩症(SMA)
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国内首部《脊髓性肌萎缩症社群职业素养手册》发布
Bei Ke Cai Jing· 2025-12-04 07:45
Core Insights - The release of the "SMA Community Career Competence Handbook" aims to support adults with Spinal Muscular Atrophy (SMA) in achieving a fair, professional, and sustainable employment environment [1][2] - SMA is a rare genetic disorder that leads to progressive muscle weakness and atrophy, significantly impacting the quality of life for patients and their families [1] - Since the approval of the first SMA gene therapy in mainland China in 2019, many patients have benefited from treatment, improving their mobility and quality of life, which has led to increased participation in education and the workforce [1] Summary by Sections - **SMA Overview** - SMA is a rare, autosomal recessive genetic disorder originating from the central nervous system, characterized by progressive muscle weakness and atrophy [1] - The disease has a high disability and mortality rate, severely affecting the quality of life for patients and their families [1] - **Impact of Treatment** - The first SMA gene therapy was approved in China in 2019 and included in medical insurance by the end of 2021, leading to improved mobility and quality of life for many patients [1] - With support from treatment and rehabilitation management, more SMA patients are achieving normal educational milestones and enhancing their work capabilities and social participation [1] - **Career Development Support** - The "Career Competence Handbook" provides a systematic employment support plan focusing on professional skills and work attitudes for SMA patients [2] - The handbook aims to facilitate a transition from "seeking care" to "delivering results" in the workplace, emphasizing the importance of professional competence for SMA individuals [2] - Experts highlight that career development and physical management can complement each other, encouraging more patients to pursue meaningful careers [2]