Sentence Examples

  • Ataxia telangiectasia (A-T), also called Louis-Bar syndrome or cerebello-oculocutaneous telangiectasia, is a rare, inherited disease that attacks the neurological and immune systems of children.
  • Ataxia means poor coordination, and the telangiectasia are tiny, red spider blood vessels which develop in A-T patients, especially on the whites of the eyes and on the surface of the ears.
  • Unlike hemophilia, where bleeding is caused by an ineffective clotting mechanism in the blood, bleeding in hereditary hemorrhagic telangiectasia is caused by fragile blood vessels.
  • Variations that cause disease are called mutations and A-T results from a defective gene, the ATM gene (for ataxia telangiectasia, mutated), first identified in 1995.
  • Establishing a diagnosis for ataxia telangiectasia is most difficult in very young children, primarily because the full-blown syndrome is not yet apparent.