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一项针对患者和护理人员报告的关于ADSS1肌肉病的洞察力的跨国研究

Merve Koç Yekedüz^1,2, Yunjung Choi³, Soo-Hyun Kim³

¹Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

|September 25, 2025

概括

腺糖酸合成酶类1 (ADSS1) 肌病显著影响患者的患者.

科学领域:

神经学神经学
遗传学是一个遗传学.
罕见疾病罕见疾病

背景情况:

腺酸酸合成酶样1 (ADSS1) 肌病是一种极为罕见的遗传性疾病.
它是由ADSS1基因中的双致病变体引起的,导致渐进的肌肉衰弱,疲劳,消化不良,并可能导致心肌病和呼吸衰竭.

研究的目的:

评估ADSS1肌肉病对患者日常生活的影响.
综合评估ADSS1肌病症患者的生活质量.

主要方法:

在6个国家对31名被诊断患有ADSS1肌肉病的参与者进行了个别采访.
采用了包含开放式问题的结构化面试和个性化神经肌肉生活质量 (INQoL) 问卷.
采用专题分析来识别患者的主要关注点,症状和生活质量挑战.

主要成果:

最常见的症状是运动能力下降 (54.8%) 和肌肉软弱 (48.3%),主要发生在下肢.
流动性下降,运动技能的损害和步行障碍是主要的担忧 (58.0%).
除了一名患者外,所有患者都报告疲劳,64.5%的患者经历疼痛,主要是在下肢. 只有5%的人表示对工作或社会生活没有影响.
关键的治疗优先事项包括改善运动功能 (51.6%) 和阻止疾病进展 (48.3%).

结论:

ADSS1肌病症给患者带来了相当大的身体和心理社会负担.
渐进的肌肉衰弱和多系统参与显著影响日常功能.
这些发现强调了早期诊断和综合多学科护理策略的急需.

关键词:

在ADSS1神经病变.类似于腺酸合成酶的1 护理人员的护理人员神经肌肉症状的神经肌肉症状人们的生活质量.

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