Duchenne Muscular Dystrophy

• most common hereditary NM disease (1/3600)

• X linked recessive; abnormal dystrophin production

• progressive weakness, hypertrophy of calf muscles, Gower’s sign, intellectual impairment

• most wheelchair bound by 12 y.o.; death by 18 y.o.

• develop scoliosis, respiratory compromise, cardiomyopathy

• Dx: increased CK, aldolase and AST; Muscle bx: muscle fiber necrosis with connective tissue proliferation

• RX: supportive, steroids

• Becker Muscular Dystrophy is basically the same dz in a milder form (ambulatory until late adolescence, life span to late 20’s)

Other muscular dystrophies: fasioscapulohumeral syndrome, limb-girdle dystrophy, myotonic dystrophy.

CHLA Board Review 2005