A 5-year-old male presented to AIIMS pediatrics OPD with a chief complaint of difficulty in climbing stairs and getting up from sitting position. There was history of maternal uncle having the same illness. On examination; there was pseudohypertrophy of calf muscle. Biopsy of the muscle was performed as shown below. What is your diagnosis?
Ans. (a) Duchenne muscular dystrophy*This is myopathy with X-linked inheritance suggested by same history in maternal uncle. On muscle biopsy prominent variation in size of muscle fibers can be seen.
Duchenne muscular dystrophy
Myotonic dystrophy
Facioscapulohumeral muscular dystrophy
Nemaline myopathy
Peripheral Nerve & Skeletal Muscles