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A 5-year-old boy has a history of delayed walking and difficulty climbing stairs. Physical examination shows a positive Gower sign and scoliosis. Laboratory tests show elevated serum creatine phosphokinase. A mutation of what protein results in this disorder?
Collagen type I
Runt-related transcription factor 2 (Runx2)
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Which of the following is most commonly inherited as a X-linked recessive disorder?
Duchenne's muscular dystrophy
Figure 24 shows the sitting AP and lateral spinal radiographs of a nonambulatory 12½-year-old boy with Duchenne muscular dystrophy who is being evaluated for scoliosis. The lumbar curve from T12 to L5 measures 36 degrees, and the thoracic curve from T3 to T12 measures 24 degrees on the AP radiograph. He has 5 degrees of pelvic obliquity. His forced vital capacity is 45% of predicted for height and weight. What is the most appropriate treatment for the spinal deformity?
Posterior spinal fusion from T2 to L5 with segmental instrumentation
Anterior spinal fusion from L1 to L4, followed by posterior spinal fusion from T2 to the sacrum with segmental instrumentation including iliac fixation
Custom-molded spinal orthosis worn 23 hours per day until skeletal maturity
A spinal orthosis until age 14 years, followed by posterior spinal fusion with segmental instrumentation
Adapted wheelchair seating with a custom-molded back support to correct scoliosis and kyphosis
Duchenne’s muscular dystrophy is a genetic disorder that is transmitted by which of the following modes of inheritance?
An 11-year-old boy is evaluated after reporting progressive difficulty walking. After extensive workup, he is diagnosed with Becker muscular dystrophy. Which of the following best describes the characteristic findings associated with this diagnosis?
Pseudohypertrophy of the calves, markedly increased creatine kinase levels, and abnormal dystrophin
Proximal muscle weakness occuring early in childhood, absent deep tendon reflexes and fasciculations
Mildly elevated creatine kinase levels, severe limb contractures present at an early age
Acute onset of weakness, hypotonia, and arefelxia resulting from postinfectious demyelination of the peripheral nerves
X-linked transmission, absence of dystrophin, and significantly increased creatine kinase levels
A 9-year-old boy with Duchenne muscular dystrophy has increasing difficulty with ambulation. He denies back pain, difficulty sitting in a chair, or shortness of breath. Annual screening spine radiographs demonstrate a 20 degree thoracolumbar curve. Which of the following statements best describes the appropriate treatment plan for his scoliosis?
Given the poor prognosis, surgical treatment is not appropriate
Posterior spinal fusion should be performed before curve progresses beyond 30 degrees
Posterior spinal fusion should be performed if the curve progresses to greater than 55 degrees
Posterior spinal fusion should be performed if FVC drops below 60%
With appropriate bracing, curve progression and surgical treatment will most likely be unnecessary
What is the inheritance pattern for Duchenne's muscular dystrophy?