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

Abstract

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.