Definitions for ataxia telangiectasia
atax·i·a telang·iec·ta·si·a

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1. Ataxia telangiectasia

   Ataxia telangiectasia is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A-T affects many parts of the body: ⁕It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. ⁕It weakens the immune system causing a predisposition to infection. ⁕It prevents repair of broken DNA, increasing the risk of cancer. Symptoms most often first appear in early childhood when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting, and may appear almost as if they are drunk. In late pre-school and early school age they develop difficulty moving the eyes in a natural manner from one place to the next. They develop slurred or distorted speech, and swallowing problems. Some have an increased number of respiratory tract infections. Because not all children develop in the same manner or at the same rate, it may be some years before A-T is properly diagnosed. Most children with A-T have stable neurologic symptoms for the first 4–5 years of life, but begin to show increasing problems in early school years.

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1. Ataxia Telangiectasia

   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).

How to pronounce ataxia telangiectasia?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say ataxia telangiectasia in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of ataxia telangiectasia in Chaldean Numerology is: 8

2. Pythagorean Numerology

   The numerical value of ataxia telangiectasia in Pythagorean Numerology is: 2

References

1. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=ataxia telangiectasia