What is the prognosis of ataxia-telangiectasia (A-T)?

Updated: Apr 06, 2020
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

The neurologic features of ataxia-telangiectasia are relentlessly progressive. In addition to the classic early features, older patients tend to develop other signs of spinocerebellar degeneration (eg, posterior cord involvement with loss of the deep tendon reflexes, spinal muscular atrophy). Most patients are wheelchair dependent by age 10-15 years, but mild forms are not rare.

Gene therapy holds promise for the future. [26]

A 20-month-old girl with T-cell acute lymphoblastic leukemia and ataxia-telangiectasia was apparently cured after only 7 weeks of antileukemic therapy, as she was reported in remission for 8 years. [27]

Death typically occurs in early or middle adolescence, usually from bronchopulmonary infection, less frequently from malignancy, or from a combination of both. The median age at death is reported to be approximately 20 years. [23] To date, the longest reported survival is 34 years. [28] In a retrospective study in the United States, mortality from all causes in ataxia-telangiectasia was 50- and 147-fold higher for white and black patients with ataxia-telangiectasia, respectively, than expected based on overall US mortality rates. [29]

Boder reviewed 58 complete autopsy cases; 27 (46%) deaths were caused by pulmonary infection alone, 12 (21%) by malignancy alone, 16 (28%) by a combination of both, and 3 (5%) by other reasons. [30]

The lifetime risk of cancer among patients with ataxia-telangiectasia has been estimated to be 10-38%, [31, 32, 33] which is about 100-fold more than the population rate [29] ; however, in the absence of chronic bronchopulmonary disease and lymphoreticular malignancy, ataxia-telangiectasia is consistent with survival into the fifth or sixth decade.

Ataxia-telangiectasia heterozygotes present an excess risk of death (they die 7-8 y earlier than the normal population), mostly from ischemic heart disease (ataxia-telangiectasia carriers die 11 y younger than noncarriers) or cancer (ataxia-telangiectasia carriers die 4 y younger than noncarriers). [23]


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