The parents will usually give a history that their child was initially normal but over a period of time he is having difficulty in getting up from squatting position. This is seen only in males, females are carriers. Most of the times there is a family history of similar illness and history of consanguineous marriage. The calf muscles appear hypertrophied but the child is weak. On examination the child will have abnormal curvature of spine and weakness of shoulder and pelvis muscles. It can be diagnosed by doing blood measurement of CPK levels, muscle biopsy and EMG studies. There is no cure for this condition and the children continue to worsen. Low dose steroids are given which delay the progression of this illness. It is best to consult a paediatric neurologist. The children should undergo regular physiotherapy to prevent early contractures.The child may develop muscle contracture for which splinting or surgery may be required.