Disease progression and economic burden of duchenne muscular dystrophy: A retrospective study using Swedish register data.

BackgroundDuchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder causing progressive muscle loss and early death. Despite global evidence on its burden, data from Sweden remain limited.ObjectiveThis study described the natural history of DMD, treatment patterns, healthcare resource utilization, and direct medical and non-medical costs among patients with DMD and their caregivers in Sweden.MethodsA retrospective, observational matched cohort study was conducted using data from the Swedish National Registry for Neuromuscular Disorders linked to national health and social registers. Patients diagnosed with DMD and their caregivers were compared to matched population controls. Disease progression was classified into four stages based on the HERCULES model.ResultsA total of 211 DMD patients (mean age at diagnosis: 4.9 years) and 877 comparators were included. Patients experienced progressive loss of function, spending on average 3.8, 4.8, 4.8, and 7.4 years in stages 1-4, respectively. Glucocorticoid use was high (84% on either prednisolone or deflazacort). Annual direct medical costs were significantly higher for DMD patients (€14,590 vs. €660). Direct non-medical costs, predominantly for personal assistance, increased substantially with disease stage, representing 89% of total DMD-related costs (€135,671 annually).ConclusionsDMD is a severe disorder marked by prolonged time in the later stages of the disease and increasing need for support. DMD imposes a significant economic burden in Sweden, with direct non-medical costs far exceeding direct medical costs. These findings highlight the need for and value of early and effective interventions to delay disease progression and alleviate societal burden.