Diagnosis delay of Duchenne Muscular Dystrophy

• Autor(a) principal: Araújo,Alexandra Prufer de Queiroz Campos
• Data de Publicação: 2004
• Outros Autores: Deco,Mariana Castro de, Klôh,Beatriz de Sá, Costa,Mariana Rangel da, Góis,Fernanda Veiga de, Guimarães,Ana Flavia Chaves Mendonça
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista Brasileira de Saúde Materno Infantil (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292004000200008
• topic: Muscular Dystrophy Duchenne; Diagnosis; Age factors

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.