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A 4-year-old boy presents to your clinic for evaluation of 'clumsiness.' His parents state that he began walking at 30 months of age. They note that he is not able to keep up with his peers in athletic activities. He is unable to climb steps without the aid of a handrail. On exam, he stands with increased lumbar lordosis and a wide based stance. When asked to rise from a seated position on the floor, the child first rolls into a crawling position on all four limbs, stands up by extending his knees and uses his upper extremities bracing against his thighs to help elevate his trunk. You confirm the diagnosis with serum enzyme assay followed by DNA analysis. The parents ask you what the chances are of their child passing on this genetic disease to his male offspring.
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A 16-year-old male presents to your clinic complaining of imbalance while sitting in his wheelchair. On exam, he has has a right thoracic and left lumbar parapinal prominence, pelvic obliquity, and equinovarus foot deformities. He has been wheelchair bound since age 12, and used ambulatory assistive devices from ages 5-11. His maternal uncle had the same progressive condition. The patient and family desire an improved sitting posture. An AP scoliosis x-ray is shown in Figure A. You recommend a T2-Pelvis posterior spinal fusion. Which of the following medical workups is appropriate for this patient prior to surgery?
Rheumatology panel and a muscle biopsy
MRI to rule out dural ectasia or syrinx
Echocardiogram and pulmonary function studies
Genetic screening of all siblings and first cousins
Trial of Baclofen pump and physical therapy prior to fusion
Which of the following is true regarding scoliosis in patients with untreated Duchenne muscular dystrophy (DMD)?
Small curves are likely to remain stable over time
50% of all patients with DMD will develop scoliosis
Spinal fusion should be offered when the Cobb angle reaches 20 to 30 degrees
Scoliosis in DMD is responsive to bracing
Scoliosis surgery is ideally performed at skeletal maturity patients with DMD
Which of the following is most commonly inherited as a X-linked recessive disorder?
Duchenne's muscular dystrophy
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)
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?
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