Delay in diagnosing Duchenne muscular dystrophy in orthopaedic clinics

Abstract

For clinical, psychological and social reasons the diagnosis of Duchenne muscular dystrophy should be established as early as possible. In a survey of 83 families with 93 affected boys, the diagnosis was missed in every case referred to an orthopaedic surgeon (37 patients). In the whole group there was a mean delay of 2.0 years (0 to 6 years) during which time inappropriate treatment, difficulties in communication with parents, much parental anxiety and further pregnancies occurred. A serum creatine kinase estimation is a simple outpatient test which should be carried out on any boy with clumsy or abnormal gait, with flat feet or with an unexplained equinus deformity.