Duchenne's muscular dystrophy (DMD) is a progressive muscle disease that inexorably results in death at about the age of 20 years. Unfortunately, there is no effective therapy for this disease. It is an X-linked recessive disorder that almost exclusively occurs in boys. Classic clinical signs are recognized around the age of 3 to 5 years. The diagnosis is made by laboratory tests, including electromyogram (EMG), muscle biopsy, and elevation of serum creatine phosphokinase (CPK) level. The latter test is particularly valuable because this enzyme is usually strikingly elevated, 20 to 50 times normal. Young children with DMD who are clinically asymptomatic also have very high levels of CPK. Newborn infants with the disease have high levels of this enzyme. Some authorities have recommended routine screening of blood CPK in newborn male infants. This has not been adopted, since, unlike other diseases (phenylketonuria, hypothyroidism, etc), there is no available therapy.
Shelborne SA. Duchenne's Muscular Dystrophy. JAMA. 1982;247(4):496–497. doi:10.1001/jama.1982.03320290042031
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