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The disease is characterized by 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.
Diagnosis
Diagnostic recommendations
Additional Information
- Ataxia-Telangiectasia, ORPHANET
- Ataxia-Telangiectasia, eMedicine
- Ataxia-Telangiectasia, Department of Neurology, Washington University School of Medicine
- Ataxia-Telangiectasia, GeneTests
- 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, Sweden