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Patients have progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. AT-like disease has a milder course.
Diagnosis
Diagnostic recommendations
Additional Information
- Ataxia-Telangiectasia, ORPHANET
- Ataxia-Telangiectasia, eMedicine
- Chromosomal breakage syndrome, eMedicine
- Ataxia-Telangiectasia, Department of Neurology, Washington University School of Medicine
- Ataxia-Telangiectasia,GeneTests, University of Washington, Seattle
- Ataxia-Telangiectasia, IDF Patient/Family Handbook
- Ataxia-Telangiectasia, National Institute of Neurological Disorders and Stroke
- Ataxia-Telangiectasia, National Center for Biotechnology Information
- Ataxia-Telangiectasia, National Organization for Rare Disorders
- Ataxia-Telangiectasia, National Cancer Institute and the National Institutes of Health
- Ataxia-Telangiectasia, Ataxia-Telangiectasia, Genetics University Hospital
- Ataxia-Telangiectasia, National Swedish Board of Health and Welfare