What is the mortality and morbidity associated with ataxia-telangiectasia?

Updated: Jul 28, 2020
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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The cause of death in more than 50% of patients with ataxia-telangiectasia is recurrent respiratory infections.

Increased susceptibility to cancer contributes to early mortality in one third to one half of cases. Ataxia-telangiectasia is an autosomal recessive syndrome in which cancers develop in affected homozygotes at a rate approximately 100 times higher than in unaffected age-matched subjects. Retrospective studies have shown that persons heterozygous for the ataxia-telangiectasia gene, who make up about 1% of the general population, also have an excess risk of cancer, particularly breast cancer in women. Patients with ataxia-telangiectasia and cells derived from homozygotes and heterozygotes are unusually sensitive to ionizing radiation.

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