S.P.31 What was the age and cause of death in patients with Duchenne muscular dystrophy in Sweden during 2000–2010?

Abstract

Abstract The aim of this project was to study the age and cause of death in patients with Duchenne muscular dystrophy (DMD) in Sweden. DMD is the most common neuromuscular disorder in childhood with an incidence of between 1:3500 to 1:4500 male births. The disorder is X-linked recessive and caused by mutations in the dystrophin gene. The gene product dystrophin has been localized to the sarcolemma. Absent dystrophin leads to progressive muscle wasting with degeneration and necrosis of muscle fibers. The disorder mainly affects the skeletal muscle and the myocardium. Onset usually occurs before the age of three years with progressive muscle weakness and loss of ambulation between seven and 13 years of age. Respiratory insufficiency occurs at 16–18 years of age. No cure is available, but corticosteroid treatment has been reported to result in improvement of muscle strength and delay loss of motor function. Home mechanical ventilation has been introduced during the last decades for patients with DMD and has been reported to result in increased survival. The cause of death in patients with DMD from Sweden was studied for the time period 2000–2010. Information about the date of death and cause of death (multiple causes if relevant) was retrieved from the Cause of Death Registry which is managed by the Swedish National Board of Health and Welfare. Cause of death was further studied in the patients’ medical journals. During 2000–2010 64 patients with DMD have been localised so far in the Cause of Death Registry. The mean age of death was 25 years, with a range of 10–46 years. The main cause of death was related to cardiac failure in 40% and to respiratory failure in 35%. Cardiac and/or respiratory failure are still the main causes of death in DMD in Sweden. The age of death reported in this study is similar to that reported in recent studies from other countries.