Living with Duchenne muscular dystrophy as an adult: motor function, ventilatory assistance and health-related quality of life

The evolving natural history of Duchenne muscular dystrophy (DMD) highlights a growing unmet need for systematic assessments of functioning and determinants of quality of life, especially in adulthood. This study investigated associations between functional ability, ventilatory support and health-related quality of life (HRQoL) among adult men with DMD, along with a comprehensive assessment of motor and lung functioning. Sixty-three adult men with DMD living in Sweden participated in the national cohort, of whom 19 continued into a prospective substudy. Our patients exhibited a rapid decline in upper limb and pulmonary function in early adulthood, accompanied by a high burden of morbidity, as also reflected in an 89.5% rate of polypharmacy. The incidence of pneumonia in adulthood was 15/100 person-years, one-fourth necessitating intensive care. Despite the progressive functional decline and multimorbidity, men with DMD reported relatively high levels of overall HRQoL. In contrast, the EQ-5D index-based utility scores were notably lower, highlighting potential discrepancies between self-reported and utility-based health assessments.