Muscular Dystrophy - 21/02/24
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1) A 2-year-old boy presents with difficulty walking and climbing stairs. On physical examination, his calves appear enlarged bilaterally. Laboratory testing reveals a creatine kinase of 700 U/L (normal <250). A muscle biopsy shows scattered degeneration and regeneration of myofibers, and the replacement of muscle tissue with fibrous connective tissue and fat. Genetic analysis reveals the absence of a gene on the X chromosome. The protein coded by the deleted gene is responsible for which of the following?
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2) A mother brings her 5-year-old boy with complaints of difficulty rising from sitting and walking. His family history is significant for a maternal uncle with similar symptoms in childhood that caused an early death. The mother has heard stories that the maternal uncle had weak muscles, although his calves appeared bulky. This is her firstborn child, and she is concerned about a possible inheritance of that disease. Examination shows a young boy with difficulty standing and walking. Which of the following clinical signs is likely present?
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3) A 35-year-old woman presents with a 2-year history of blurry vision and trouble looking upwards. Physical examination reveals bilateral upper lid ptosis and normal extraocular motions. The pupils are equal, round, and reactive to light. The visual acuity in the right eye is 20/70 and in the left eye 20/90. There is bilateral obscuration of the fundus on ophthalmic examination. She raises her knees during ambulation and makes a slapping sound on the floor while walking. Her electrocardiogram indicates a block within the heart. What is the pathogenesis of these signs and symptoms?
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