ArticleJournal of patient-reported outcomes2021
Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model.
Article in Journal of patient-reported outcomes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- A patient-centered qualitative evaluation of meaningful change on the NSAA and PUL in Duchenne Muscular Dystrophy.Frontiers in neurology · 2025Article
- Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience Study.Advances in therapy · 2024Article
- "You Take This Day by Day, Come What May": A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy.Advances in therapy · 2024Article
- A disease concept model for STXBP1-related disorders.Epilepsia open · 2023Article
- Caregivers' Perspectives on the Impact of Cannabidiol (CBD) Treatment for Dravet and Lennox-Gastaut Syndromes: A Multinational Qualitative Study.Journal of child neurology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuchenne 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.
methodsQualitative 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.
resultsTen 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.
conclusionIndividuals 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.
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