Diagnosis delay of Duchenne Muscular Dystrophy

Revista Brasileira de Saúde Materno Infantil

Alexandra Prufer De Queiroz Campos Araújo²  Mariana Castro De Deco¹  Beatriz De Sá Klôh¹  Mariana Rangel Da Costa¹  Fernanda Veiga De Góis¹  Ana Flavia Chaves Mendonça Guimarães¹ 

[1] ,Instituto de Puericultura e Pediatria Martagão Gesteira

关键词: Muscular Dystrophy Duchenne;    Diagnosis;    Age factors;    Distrofia Muscular de Duchenne;    Diagnóstico;    Fatores etários;   

DOI  :  10.1590/S1519-38292004000200008

来源: SciELO

【 摘 要 】

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.

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