J Am Acad Orthop Surg, Vol 10, No 2, March/April 2002, 138-151.

© 2002 the American Academy of Orthopaedic Surgeons

Duchenne Muscular Dystrophy

Journal of the American Academy of Orthopaedic Surgeons

Michael Sussman, MD

Dr. Sussman is Staff Orthopedic Surgeon and Former Chief of Staff, Shriners Hospitals for Children,
Portland, OR.

Reprint requests: Dr. Sussman, Shriners Hospitals for Children, 3101 SW Sam Jackson Park Road,
Portland, OR 97201.

Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of

the protein dystrophin. Affected boys begin manifesting signs of disease early in life,
cease walking at the beginning of the second decade, and usually die by age 20 years.
Until treatment of the basic genetic defect is available, medical, surgical, and
rehabilitative approaches can be used to maintain patient function and comfort.
Corticosteroids, including prednisone and a related compound, deflazacort, have
recently been shown to markedly delay the loss of muscle strength and function in boys
with Duchenne muscular dystrophy. Surgical release of lower extremity contractures may
benefit some patients. Approximately 90% of boys with Duchenne muscular dystrophy
will develop severe scoliosis, which is not amenable to control by nonsurgical means such
as bracing or adaptive seating. The most effective treatment for severe scoliosis is
prevention by intervening with early spinal fusion utilizing segmental instrumentation as
soon as curves are ascertained and before the onset of severe pulmonary or cardiac
dysfunction.