A 4-year-old male child presents with muscles weakness. His mother tells that her child has difficulty in climbing stairs and getting up from the floor. On muscle biopsy, small muscle fibrils and absent of dystrophic was found. What is the diagnosis out of given option?

Correct Answer: Duchenne muscular dystrophy
Description: Duchenne Muscular Dystrophy Progressive weakness Calf muscle involvement Pseudo hyperophy Difficulty in climbing stairs Gowersign present (+) Wheel chair bound Patient Death - CHF/ Pneumonia CPK MM: Increased IOC: - PCR for dystrophin gene (Dystrophin gene absent) Rx: - Chest Physiotherapy NOTE:Immunohistochemical studies for dystrophin show Absence of the normal sarcolemma staining pattern in Duchenne muscular dystrophin Reduced staining in Becker muscular dystrophy.
Category: Medicine
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