Tardanza en el diagnóstico de la distrofia muscular de Duchenne en Chile / Delayed diagnosis of Duchenne muscular dystrophy in Chile

RESUMO

Background: Duchenne muscular dystrophy is the most frequent neuromuscular disease in children. Aim: To determine the causes of delayed diagnosis of the disease. Patients and methods: The clinical records of 61 children diagnosed as Duchenne progressive muscular dystrophy were analyzed. Results: the first symptoms of the disease were noticed at a mean age of 1.5 years. Parents consulted at the mean age of 3 years, but the accurate diagnosis was made at a mean age of 5.7 years. In only 15 percent of children, the disease was diagnosed in the first four years of age. Less than 20 percent of children were referred for an adequate study and the rest were managed mainly as flat feet. Conclusions: Duchenne dystrophy is the most common neuromuscular disorder in children, with an incidence of 1 in 3679 male newborns. The lack of recognition of non specific symptoms such as retardation in independent walking and frequent falls as forms of presentation, is probably the most important cause of diagnostic delay. Strong recommendation is made to measure creatinphosphokinase and to study every male child that is not walking independently by the age of 18 months