Approach

Although children with DMD can also be hypotonic at birth, the classic presentation of DMD, the most common and rapidly progressive muscular dystrophy, is in a toddler with delayed motor milestones, calf hypertrophy, proximal hip girdle muscle weakness, and marked elevation of serum creatine kinase (CK). Elevations in serum muscle enzymes suggest the need for muscle biopsy to diagnose the condition. The pattern of muscle weakness and the mode of inheritance can point towards the diagnosis following clinical evaluation. Further diagnostic confirmation can be achieved through laboratory and genetic testing and muscle biopsies. As soon as DMD is diagnosed, patients should be referred to speciality clinics so that the family can receive counselling about current and future treatment options. Other later presenting forms of muscular dystrophy are likewise suspected on the basis of hypotonia and weakness, and are diagnosed by muscle biopsy and DNA analysis.

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