无义突变杜氏肌营养不良症在不同行走阶段的症状及影响

IF 0.6 Q4 CLINICAL NEUROLOGY

Future Neurology Pub Date : 2022-02-03 DOI:10.2217/fnl-2021-0013

K. Williams, K. Buesch, S. Acaster

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引用次数: 0

摘要

目的:在DMD自然历史模型中描述无义突变杜氏肌营养不良症(DMD)在不同健康状态的经历。材料和方法:对英国无义突变DMD患者的护理人员(n = 10)进行定性访谈。结果:对处于早期门诊(n = 6)、晚期门诊(n = 3)和转院(n = 3)健康状态的个体的护理人员进行了访谈。健康状况严重程度的增加与身体功能的下降有关，这影响了日常和社会活动、情绪健康和照顾者负担。结论:身体功能下降可损害日常生活，影响个人及其照顾者的健康相关生活质量。延迟健康状态之间的进展有可能防止功能丧失和与健康相关的生活质量下降。

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Symptoms and impacts of nonsense mutation Duchenne muscular dystrophy at different stages of ambulation

Aim: To describe the experience of nonsense mutation Duchenne muscular dystrophy (DMD) across different health states in the DMD natural history model. Materials and methods: Qualitative interviews were conducted with UK caregivers (n = 10) of individuals with nonsense mutation DMD treated with ataluren. Results: Interviews were conducted with caregivers of individuals in the early ambulatory (n = 6), late ambulatory (n = 3) and transfers (n = 3) health states. Increasing health state severity was related to decreased physical function, which impacted daily and social activities, emotional well-being and caregiver burden. Conclusion: Declining physical function can impair daily life and impact the health-related quality of life of individuals and their caregivers. Delaying progression between health states has the potential to prevent loss of function and decline in health-related quality of life.

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来源期刊

Future Neurology CLINICAL NEUROLOGY-

CiteScore

2.10

自引率

0.00%

发文量

期刊介绍： The neurological landscape is changing rapidly. From the technological perspective, advanced molecular approaches and imaging modalities have greatly increased our understanding of neurological disease, with enhanced prospects for effective treatments in common but very serious disorders such as stroke, epilepsy, multiple sclerosis and Parkinson’s disease. Nevertheless, at the same time, the healthcare community is increasingly challenged by the rise in neurodegenerative diseases consequent upon demographic changes in developed countries.