Duchenne muscular dystrophy.
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.
Sussman
Michael
M
Shriners Hospitals for Children, Portland, OR 97201, USA.
D000818:Animals; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D003286:Contracture / Q000209:etiology / Q000517:prevention & control; D003402:Creatine Kinase / Q000097:blood; D018450:Disease Progression; D016189:Dystrophin / Q000235:genetics; D005684:Gait; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007719:Knee Joint / Q000503:physiopathology; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D010808:Physical Examination; D026741:Physical Therapy Modalities; D011282:Pregnenediones / Q000627:therapeutic use; D011379:Prognosis; D016059:Range of Motion, Articular; D012600:Scoliosis / Q000209:etiology; D013123:Spinal Fusion
D000893:Anti-Inflammatory Agents; D016189:Dystrophin; D005938:Glucocorticoids; D011282:Pregnenediones; D003402:Creatine Kinase; C021988:deflazacort