A 6-year-old child presented with a Trendelenburg gait to the OPD. History of progressive muscle weakness and intellectual impairment was present. He had gained head control by the age of 7 months and had staed walking by the age of 18 months. Her child also had trouble in running and going upstairs. Serum CK levels were elevated drastically O/E Lordotic posture Difficulty in standing up from a sitting position X ray spine was also taken. Muscle biopsy from the quadriceps femoris NCV studies were done and were normal. Which of the following protein is involved in the given diagram: –
Correct Answer: D
Description: This is a case of Duchenne muscular dystrophy Due to deficiency of the dystrophin gene. Presents with Delayed developmental milestones, waddling gait, Gower's sign, difficulty in running and jumping with frequent falls. X-ray shows scoliosis which is a common finding in DMD Muscle biopsies shows: - Segmental myofiber degeneration Regeneration Admixture of atrophic muscle fibres. Replacement of muscle tissue by collagen and fat cells ("fatty replacement" or "fatty infiltration"). STRUCTURE OF CELL MEMBRANE AND SARCOLEMMAL PROTEINS
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