A new study has shed some light on the symptoms and impact of nonsense mutation Duchenne muscular dystrophy (nmDMD) in patients who are still ambulatory. The major symptoms identified in the study were muscle weakness and muscle breakdown that ultimately impacted the patients’ daily activities, social activities, and emotional wellbeing.
The study’s authors used the results of caregiver interviews to create a conceptual model that illustrates the relationships between the many factors related to the patient’s health-related quality of life (HRQoL). The study, which was funded by PTC Therapeutics, also investigated the patient’s experiences since beginning treatment with ataluren (Translarna™).
Telephone interviews were conducted with 10 parents of ambulatory nmDMD patients in the UK. The male patients ranged in age from 4 to 19 years old. The caregivers reported weakness and muscle breakdown affecting the patient’s upper and lower limbs as well as core strength. The weakness then leads to pain, falls, and fatigue that impact daily activities such as self-care and school experiences. Fatigue also affects cognitive function through learning or memory difficulties, trouble focusing, and communication issues.
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Respondents said symptoms of nmDMD also have an impact on them socially, with the patients missing out on activities and having trouble keeping up with others and making friends. The physical and social impacts also had emotional effects, leading to feelings of anger, frustration, anxiety, and sadness that could ultimately lead to behavioral issues.
According to the study’s authors, “This is the first qualitative study to explore the symptoms, impacts and challenges experienced by ambulatory individuals with nmDMD and to illustrate the relationship between these concepts in a patient-centered conceptual model.”
The study found that many of the patients received professional support to manage their nmDMD. Several patients also made use of equipment or devices to help with their physical limitations which helped reduce fatigue and falls but could have negative social impacts.
The caregivers interviewed reported mixed changes in their child’s symptoms after initiation of ataluren treatment, with some patients appearing to have increased strength and endurance, some maintaining their current level, and some continuing to decline. The majority of caregivers viewed treatment as positive, however, attributing it to an improvement, stability, or slowed decline in symptoms.
Williams K, Davidson I, Rance M, Boehnke A, Buesch K, Acaster S. Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model. J Patient Rep Outcomes. 2021;5(1):75. doi:10.1186/s41687-021-00341-x