Delay in diagnosis of Duchenne muscular dystrophy may reduce benefit from new corticosteroid protocol

Abstract

About one-third of boys with Duchenne muscular dystrophy (DMD) have associated learning difficulties, particularly speech and language delay, and this may be the initial presenting complaint. Attention is often focused on behaviour and learning difficulties, and the progressive muscle weakness may not be noticed until the condition is advanced. Now that corticosteroids have been established as the gold standard of care, delay in the diagnosis of DMD has become far more relevant because any delay may limit the benefit that can be gained from steroid therapy, since muscle strength that has been lost cannot be regained. We present 3 cases of boys with unexplained learning difficulty in whom the diagnosis could have been made far earlier if a creatine kinase test had been done at presentation.