[Delayed diagnosis of Duchenne muscular dystrophy in Chile].
BACKGROUND
Duchenne muscular dystrophy is the most frequent neuromuscular disease in children.


OBJECTIVE
To determine the causes of delayed diagnosis of the disease.


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% of children, the disease was diagnosed in the first four years of age. Less than 20% 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.
de los Angeles Avaria
M
M
Servicio de Neuropsiquiatría Infantil, Hospital Clínico San Borja Arriarán, Facultad de Medicina, Universidad de Chile.
Kleinsteuber
K
K
Herrera
L
L
Carvallo
P
P
D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002677:Chile; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis*; D013997:Time Factors
Tardanza en el diagnóstico de la distrofia muscular de Duchenne en Chile.