Gower's sign is seen in

Ans. (a) Duchenne muscular dystrophy* Duchennes muscular dystrophy is an X-linked recessive condition where boys suffer from disease while girls are carriers. The protein defective is dystrophin due to defect of dystrophin gene on chromosome Xp.21.* Boys present between 3-5 years of age with clumsy gait and history of recurrent falls. The gait is peculiar and is known as waddling gait. Most children become wheel chair bound by 12- 15years of age. Gower sign is a characteristic feature characterized by child getting up gradually.* On physical examination pseudo-hypertrophy (called so because of the physical appearance) but actually has fat deposition around the muscles. The weakness of respiratory muscles results in recurrent pneumonia that ultimately results in mortality.Investigations* CPKMM* EMG and nerve conduction velocity* Muscle biopsy and western blot analysis of tissue specimen