Information for Patients

Duchenne muscular dystrophy is an X-linked recessive disease characterized by progressive muscle weakness caused by an absence of the protein dystrophin. Diagnosis and subsequent management of the patient with Duchenne muscular dystrophy may be challenging and requires input from and collaboration with multiple medical and ancillary providers. In most instances, diagnosis of Duchenne muscular dystrophy is relatively straightforward because of the relatively classic presentation and laboratory confirmation. Musculoskeletal care should be focused on maximizing the patient's upright status as late in life as possible, as well as maintaining the function and comfort of the patient when ambulation is no longer possible. There is some evidence that medical management using steroid protocols may be beneficial in this regard, but these medications have significant inherent short- and long-term problems. The one orthopedic intervention that has demonstrated utility with respect to improving quality, if not quantity, of life is early posterior spinal fusion. This will improve upright sitting status and function of wheelchair-dependent patients and appears to have some positive effect on maintaining, or at least slowing, the relentless progression of pulmonary deterioration characteristic of this disease.