Question 1 · Medium
A 5-year-old boy in Lucknow is brought to the OPD because he falls often and cannot keep up with other children. He walks with a waddling gait, has enlarged firm calves and, to rise from the floor, turns prone and pushes himself up with his hands on his knees and thighs. His maternal uncle used a wheelchair from the age of 11. Which investigation should be done first?
- ANerve conduction studies
- BSerum creatine kinase
- CMRI of the spine
- DMuscle biopsy with dystrophin staining
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Answer: B · Serum creatine kinase
Gowers sign, calf pseudohypertrophy and proximal weakness in a young boy with an affected maternal uncle (X-linked inheritance) suggest Duchenne muscular dystrophy. Serum creatine kinase is the first test: it is raised many times above the upper limit of normal from early life, before weakness appears. A high CK is followed by genetic testing for deletions or duplications in the dystrophin gene, which confirms most cases; muscle biopsy is kept for boys in whom genetic tests are negative. Corticosteroids such as prednisolone or deflazacort slow the loss of strength.
- A: Nerve conduction is normal in a myopathy and is used to study neuropathies.
- C: MRI of the spine looks for cord lesions, which give upper motor neuron signs.
- D: Biopsy is invasive and is now kept for cases in which genetic testing is negative.