OBJECTIVES: Duchenne muscular dystrophy (DMD) is a progressive genetic disease with a prevalence of 1 per 3,600–6,000 male births. Patients are typically diagnosed at age 4-7 years with a median survival around 30 years. Using real world data, the objective was to assess the burden of disease in DMD in Denmark for patients as well as their closest relatives, i.e. siblings and parents.

METHODS: Using comprehensive Danish national registers DMD patients (ICD10: G71.0H) were identified in the National Patient Register (1994-2021) and followed from five years before DMD diagnosis, and up to 20 years after. Parents and siblings were afterwards identified in the Central Person Register. Outcomes of the three groups were compared to matched control groups (1:10) drawn from the general Danish population. Outcomes included incidence, prevalence, use of healthcare services, labour market participation, educational outcomes, and overall attributable costs due to DMD.

RESULTS: Data on 213 unique DMD patients (2,106 matched controls), 388 parents (3,800 matched controls), and 188 siblings (1,879 matched controls) were included. Median incidence of DMD was 6.5 with increasing prevalence over time. DMD patients consumed more (hospital, primary and home) care and prescription drugs than controls. They had lower school grades and required more special education summing up to EUR 180,900 over the course of 11 years elementary school. The extra healthcare costs of DMD 20 years after diagnosis were € 1,524,000, and increasing to € 2,365,800 for patients reaching 30 years. Patients’ annual average productivity loss was € 20,200, whereas no difference in income with controls were found for parents and siblings. Siblings had also lower grades and higher use of special education.

CONCLUSIONS: DMD patients’ use of healthcare services and attributable costs due to DMD significantly increased over time as disease progresses. Evidence of burden for closest relatives was also found.