Which clinical history findings are characteristic 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

Even in classic ataxia-telangiectasia with ataxia and telangiectasia, the onset of clinical symptoms and the rate of progression are variable. Several reports describe differences in the age of presentation and the rates of progression.

Some classify patients in groupings that reflect the clinical heterogeneity. Type I is the classic syndrome with all manifestations described below. Type II lacks some of the typical findings but shows radiosensitivity. Type III has the classic clinical findings but is not radiosensitive. Type IV shows only some clinical features and is not radiosensitive.

Patients with atypical forms of ataxia-telangiectasia are uncommon. Some of these patients lack one or the other of the laboratory markers. These forms raise the question of the genetic heterogeneity of the disease, a question that will be solved by identifying the abnormal gene or genes. All biological markers for ataxia-telangiectasia are absent, and, in several cases, cultured fibroblasts were normally resistant to irradiation. The course is usually more benign and appears to represent a disease distinct from ataxia-telangiectasia.

Repeated sinopulmonary infections are present in 48-81% of patients. One study divided the patients into 3 groups with regard to the occurrence of infections. One third of patients had frequent and severe infections with progressive lung disease. One third of patients had infections but no progressive lung disease. The remaining third had only a normal incidence of infections. A good correlation exists between the occurrence of infections and immunodeficiency as assessed by laboratory tests.


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