Pediatrics · Growth and Development (Milestones, Developmental Disorders)

A 4-year-old boy is evaluated for difficulty climbing stairs, frequent falls, and calf hypertrophy. His mother reports he did not walk independently until 18 months of age. On examination, he uses his hands to push himself up from a squatting position. This manoeuvre is characteristic of which condition?

  • A Spinal muscular atrophy type II
  • B Duchenne muscular dystrophy
  • C Congenital myotonic dystrophy
  • D Cerebral palsy, spastic diplegia
Correct answer: B. Duchenne muscular dystrophy

Explanation

Gower sign, where the child uses hands to 'walk up' the thighs when rising from the floor, is classic for Duchenne muscular dystrophy due to proximal muscle weakness. Delayed walking (after 18 months), calf pseudohypertrophy, and elevated creatine kinase are characteristic. DMD is X-linked recessive, caused by dystrophin gene mutations. SMA type II presents earlier and does not cause calf hypertrophy. Cerebral palsy is non-progressive and does not cause calf hypertrophy.

Reference: Nelson Textbook of Pediatrics, 21st ed.

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