Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia

@article{Cabana1998ConsequencesOT,
  title={Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia},
  author={Michael D. Cabana and Thomas O. Crawford and Jerry A. Winkelstein and James R. Christensen and Howard M. Lederman},
  journal={Pediatrics},
  year={1998},
  volume={102},
  pages={100 - 98}
}
Objectives. Ataxia-telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder in which the diagnosis is obvious when ataxia and telangiectasia are both present. However, the diagnosis can be made upon the onset of ataxia and before the appearance of telangiectasia if confirmed by laboratory tests. Early diagnosis is important for genetic counseling, appropriate care, and avoidance of unnecessary tests. The purpose of this study is to identify factors responsible for delays in… Expand
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