Rare x-linked disorder (boys only affected) that leads to progressive muscle wasting
Aetiology
A defect in the dystrophin gene involved in calcium transport results in muscle weakness which may only be noticed when the boy starts to walk with difficulty standing (Gower’s sign) and going up stairs
Clinical presentation
Progressive muscle weakness follows and by the age of 10 or so he can no longer walk and by age 20 progressive cardiac and respiratory failure develop with death typically in the early 20s
Investigations
Raised serum creatinine phosphokinase
Abnormalities on muscle biopsy
Management
Physiotherapy, splintage and deformity correction may prolong mobility
Severe scoliosis may be corrected by spinal surgery
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