Recent developments in the management of Duchenne muscular dystrophy
Michela Guglieri, Kate Bushby
Duchenne muscular dystrophy (DMD) is the most common severe heritable muscle disorder of childhood. Affected boys show first symptoms around the age of 2–5 years with progressive muscle weakness and wasting leading to severe disability and reduced life span due to cardiac and respiratory complications. Although no curative treatment is currently available for this severe and fatal condition recent advances in general, respiratory and cardiac care and judicious use of corticosteroids have changed the natural course of DMD. Careful and timely management of the disease, its complications and psychosocial aspects is mandatory. Such interventions have been shown to improve quality of life and prolong survival, so that most of patients now reach adulthood. New promising treatments have been identified by research studies. Translating these successes into clinical practice to maximize benefit for children and families will benefit from a standardized approach to management.
A multidisciplinary approach is a key element for the care of these patients, where a central role can be played by paediatricians in all aspects of management and coordination of the specialists involved. This review is based on the internationally agreed care recommendations for DMD and aims to provide some guidelines to paediatricians for the management of these patients.