Disease or Syndrome
ataxia telangiectasia
a·tax·i·a tel·an·gi·ec·ta·sia
Subclass of:
Primary immune deficiency disorder;
DNA Repair-Deficiency Disorders;
Genetic Diseases, Inborn;
Neurocutaneous Syndromes;
Ataxia, Spinocerebellar;
Telangiectasis
Definitions related to ataxia telangiectasia:
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(ataxia-telangiectasia) A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
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An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include Ataxia - trouble coordinating movements; Poor balance; Slurred speech; Tiny, red spider veins, called telangiectasias, on the skin and eyes; Lung infections; Delayed physical and sexual development. People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and StrokeMedlinePlusU.S. National Library of Medicine, 2021
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Inherited disease characterized by onset in early childhood of progressive cerebellar ataxia, oculocutaneous telangiectasis, and severe sinopulmonary infections.CRISP ThesaurusNational Institutes of Health, 2006
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(ataxia telangiectasia syndrome) Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.NCI ThesaurusU.S. National Cancer Institute, 2021
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Ataxia-telangiectasia results from a DNA repair defect that frequently results in humoral and cellular deficiency; it causes progressive cerebellar ataxia, oculocutaneous telangiectasias, and recurrent sinopulmonary infections. IgA and serum alpha-1 fetoprotein levels are measured. Genetic testing is needed to confirm the diagnosis....Merck & Co., Inc., 2020
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Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray hypersensitivity, ocular and cutaneous telangiectasia (see image below),...WebMD, 2019
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Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia,...National Center for Advancing Translational Sciences
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