A 4-yr old male child presents with muscle 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 dystrophin was found. what is the diagnosis out of given options?: (A) Becker's muscle dystrophy, (B) Duchenne muscular dystrophy, (C) Myotonic dystrophy, (D) Limb-girdle muscular dystrophy
Answer is B. Duchenne Muscular Dystrophy Progressive weakness Calf muscle involvement Pseudo hyperophy Difficulty in climbing stairs Gower sign 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.