Recent developments in the management of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common and severe childhood muscular dystrophy, resulting in progressive muscle weakness and wasting, disability and decreased survival. Although the molecular defect in DMD is known, no curative treatment is available. The treatment options of glucocorticoid corticosteroids and supportive measures, such as ventilation and management of cardiac insufficiency, have become accepted clinical practice in the last decade, and these are of major interest to the paediatrician as they have significantly changed the course of the disease in treated individuals. This has implications not only for the affected individual and his family, but also for the medical and social sectors to provide transition to adult medical services and for provision of suitable employment, and social care.Several experimental therapeutic strategies, including cell and gene therapy, are promising, with encouraging results in relevant animal models and in cultured human cells. As a number of approaches are in early clinical trials, expectations are raised of their impact as a cure for DMD; nevertheless, it is not realistic to expect that these approaches will have a substantial impact on disease course in the short term. While waiting for a curative therapy to become available, symptomatic and palliative treatment is essential to enhance the patient’s quality of life. This review addresses the advances in these therapies aimed at improving function and quality of life in patients with DMD, and the current status of research into the DMD experimental therapies.