%0 Journal Article
%T Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model.
%A Williams K
%A Davidson I
%A Rance M
%A Boehnke A
%A Buesch K
%A Acaster S
%J J Patient Rep Outcomes
%V 5
%N 1
%D Aug 2021 21
%M 34420127
暂无%R 10.1186/s41687-021-00341-x
%X <B>BACKGROUND: </B>Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the symptoms and impacts of nonsense mutation Duchenne muscular dystrophy and experience with ataluren.<BR><B>METHODS: </B>Qualitative interviews were conducted with caregivers in the UK. Interviews were conducted by telephone, were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.<BR><B>RESULTS: </B>Ten interviews were conducted with parents of individuals aged 4-19 years. Key symptoms included muscle weakness and muscle breakdown, which were associated with limitations in physical function and pain. These impacted individuals' daily activities, social activities and emotional wellbeing. These concepts and relationships were illustrated in a conceptual model, along with positive and negative moderating factors. Experience with ataluren and changes since initiation with treatment were discussed.<BR><B>CONCLUSIONS: </B>Individuals with nonsense mutation Duchenne muscular dystrophy experience a range of interrelated symptoms and functional issues which impact their broader health-related quality of life. Treatments which address this high unmet need have the potential to improve the health-related quality of life of these individuals.