Diagnosis delay of Duchenne Muscular Dystrophy

OBJECTIVES: to study the clinical features of Duchenne Muscular Dystrophy with emphasis on diagnosis delay. METHODS: an observational descriptive retrospective study was performed using medical records of patients with diagnosis of Duchenne Muscular Dystrophy given in the period from 1989 to 2000 at the neuropediatric out-patient clinic of a University Hospital. RESULTS: immunohistochemical results or deletion on the dystrophin gene confirmed the diagnosis of the 78 boys included in this study. Parents had noticed the first symptoms since the median age of two years. The final diagnosis was reached at a median age of seven. CONCLUSIONS: diagnosis age is closer to the age of ambulation loss than that of the first symptoms. There is a marked delay for the diagnosis of this disease in our setting.

Bibliographic Details

Main Authors:	Araújo,Alexandra Prufer de Queiroz Campos, Deco,Mariana Castro de, Klôh,Beatriz de Sá, Costa,Mariana Rangel da, Góis,Fernanda Veiga de, Guimarães,Ana Flavia Chaves Mendonça
Format:	Digital revista
Language:	English
Published:	Instituto de Medicina Integral Prof. Fernando Figueira 2004
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292004000200008
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