Background Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder characterised by progressive muscle degeneration leading to severe disability and early mortality, with no cure. This disease process affects nearly every aspect of daily functioning, from basic movements to respiratory and cardiac functions, and consequently imposes a significant burden on patients, caregivers and families. We aimed to review the available literature examining the epidemiological, health-related quality of life (HRQoL) and economic burden of DMD in Australia from a societal perspective.

Methods This scoping review was conducted by searching Embase and PubMed databases up until 22 August 2024. Two independent reviewers screened titles, abstracts and full texts. Studies that evaluated the epidemiological, HRQoL-related or economic burden of DMD in an Australian-specific context were included.

Results We identified 169 articles and assessed the full text of 32, of which nine were included in the review. Eight studies were observational with one theoretical/computational study. Four studies addressed the epidemiological burden, estimating a birth prevalence of 18.6 to 22.7 DMD cases per 100 000 male live births. Another four studies examined the HRQoL-related burden with three generic patient-reported outcome measures (PROMs) used to assess HRQoL. Two PROMs indicated lower self-reported and parent proxy HRQoL scores in boys with DMD compared with the general population, and the other PROM evaluated parental/caregiver HRQoL. One study detailed the economic burden in 104 households, reporting significant annual socioeconomic burden of DMD associated with high levels of healthcare costs, non-medical resource use and caregiving burden to households.

Conclusions Although the data estimating the epidemiological, HRQoL-related and economic burden of DMD in Australia is limited, existing evidence demonstrates a considerable societal burden of DMD. In the context of emerging disease-modifying therapies for DMD, it provides a summary of existing local evidence and research gaps, highlighting a need for further research.