Epidemiology, treatment practices, and societal and economic burden of Duchenne muscular dystrophy in Finland: A retrospective register and chart review study

Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration. This retrospective register and chart review study utilized data from Finnish registers and Helsinki University Hospital to assess the epidemiology, treatment practices, and economic burden of DMD in Finland. Analysis of primary outcomes (incidence, prevalence, and mortality) included all males with a DMD diagnosis from 1996 to 2022 (N = 250). Secondary outcomes were studied in the cohort from 2013 to 2022. From 1996 to 2022, mean annual incidence of DMD was 0.98/5000 male newborns, and mean annual prevalence was 2.46/100,000 residents. Mean age at diagnosis was 6.5 years and median survival was 18.5 years after diagnosis. The most common causes of death were muscular dystrophy, pneumonia, and dilated cardiomyopathy. Secondary analyses of 175 patients found mean age at diagnosis was 5.8 years. Common comorbidities included respiratory failure (42.9%), scoliosis (39.4%), and pneumonia (38.3%). Annually, patients had a mean 7.0 primary and 11.0 secondary care contacts related to DMD; all-cause secondary care contacts contributed to 86.0% of patient healthcare costs. Diagnosis of DMD now occurs earlier compared with the beginning of the study period, and burden of disease and healthcare costs remain high and start at an early age.