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A 3-month-old infant presents to your clinic with difficulty moving his extremities. The child had an uneventful prenatal course and birth, but since birth he has had poor head control and difficulty feeding. On physical exam, he is able to move all extremities, but he moves his upper extremities more than his lower extremities, and his hands more than his shoulders. He has no spasticity, but global weakness. The patient’s deep tendon reflexes are absent, but he has tongue fasciculations. What is the cellular pathology and prognosis for this patient?
The patient has a nonprogressive injury to his brain, and he will likely require multiple orthopaedic surgeries in the future as a result of muscle imbalance
The patient has an absent dystrophin protein and will likely require a wheelchair by the age of 15 and will die of cardiorespiratory problems by the age of 20
The child will have a progressive loss of alpha-motor neurons in anterior horn of spinal cord. He will have difficulty walking, but will be able to sit independently and will likely live into the fifth decade of life
The child will have a progressive loss of alpha-motor neurons in anterior horn of spinal cord and will unlikely live past the age of two
The child will likely go on to develop a cavus foot and hammer toes, but he should live a full healthy life
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A newborn infant is born with the physical exam finding shown in the video below. In addition, the child has absent deep tendon reflexes and hypotonia. Which of the following abnormalities is most likely responsible for these findings?
Gene mutation in SMN1
Deficiency of Dystrophin protein
Gene mutation in COMP
Gene mutation in COL1A1
A 12-month-old male presents with symmetric, progressive weakness that is more profound in lower extremity than upper extremity. On physical exam, he can sit but cannot walk. He has tongue fasciculations and absent deep tendon reflexes. Serum creatine phosphokinase and aldolase levels are normal. Which of the following genetic mutations or deletions is responsible for his condition?
Androgen receptor gene