Symptoms and Impacts of Nonsense Mutation Duchenne Muscular Dystrophy at Different Stages of Ambulation | Zendy

K. Williams | Zendy; K. Buesch | Zendy; Sarah Acaster | Zendy

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Symptoms and Impacts of Nonsense Mutation Duchenne Muscular Dystrophy at Different Stages of Ambulation

Author(s) -

K. Williams,

K. Buesch,

Sarah Acaster

Publication year - 2021

Publication title -

future neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.419

H-Index - 32

eISSN - 1748-6971

pISSN - 1479-6708

DOI - 10.2217/fnl-2021-0013

Subject(s) - nonsense mutation , duchenne muscular dystrophy , quality of life (healthcare) , medicine , muscular dystrophy , ambulatory , nonsense , gerontology , physical therapy , mutation , genetics , nursing , biology , missense mutation , gene

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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