Analysis of an adult Duchenne muscular dystrophy population

Background: Advances in management have led to increasing numbers of patients with Duchenne muscular dystrophy (DMD) reaching adulthood. Older patients with DMD are necessarily severely disabled, and their management presents particular practical issues. Aim: To review the management of a late adolescent and adult DMD population, and to identify areas in which the present service provisions may be inadequate to their needs. Design: Retrospective review. Methods: We studied 25 patients with DMD referred to an adult neuromuscular clinic over a 7-year period. Clinical details were obtained retrospectively, from case notes or direct observations. Results: There were 24 males and one symptomatic female carrier. Nine patients died during the observation period. There was no significant correlation between age of wheelchair confinement and age of death. Sixteen patients received non-invasive positive pressure support. Twelve attended mainstream schools and 12, residential special schools. All the patients lived at home for some or all of the time, when their main carers were either one or both of the parents. The most striking difficulties were with the provision of practical aids, including appropriate hoists and belts, feeding and toileting aids, and the conversion of accommodation. Patients rarely wished to discuss the later stages of their disease, and death was often more precipitate than expected. Death usually occurred outside hospital and the final cause was often difficult to establish. Discussion: Adult patients with DMD develop progressive impairment, due to respiratory, orthopaedic and general medical factors. However, the particular areas of difficulty in this study often reflected inadequate and poorly directed social and medical support, illustrating the need for improvements in the structure, co-ordination and breadth of rehabilitation services for adult patients with DMD.