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The mother of a 5-year-old boy reports that her son cannot rise from a sitting t

ID: 3518318 • Letter: T

Question

The mother of a 5-year-old boy reports that her son cannot rise from a sitting to a standing position without support from his arms "walking up his thighs". He also falls frequently. Physical examination reveals proximal muscle weakness, especially in the lower limbs. The physician orders bone x-rays, a serum aldolase test, and nerve conduction tests. Two of the test results are abnormal, and the physician makes a preliminary diagnosis of muscular dystrophy. This diagnosis is later confirmed by muscle biopsy. Which of the three results was (were) abormal?

The mother of a 5-year-old boy reports that her son cannot rise from a sitting to a standing position without support from his arms "walking up his thighs". He also falls frequently. Physical examination reveals proximal muscle weakness, especially in the lower limbs. The physician orders bone x-rays, a serum aldolase test, and nerve conduction tests. Two of the test results are abnormal, and the physician makes a preliminary diagnosis of muscular dystrophy. This diagnosis is later confirmed by muscle biopsy. Which of the three results was (were) abormal?

Explanation / Answer

To make a preliminary diagnosis of muscular dystrophy serum aldolase level and nerve conduction test are abnormal.

In muscular dystrophy elevated serum aldolase level is highest.

nerve conduction test show small action potential.

generally bone x rays may show fracture of femur which cannot lead to diagnose for muscular dystrophy.

Muscle biopsy is the confirmatory test for muscular dystophy.