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Created with Fabric.js 1.4.5 Who's affected? Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. Ataxia-telangiectasia Diagnosis:Elevated level of the blood protein CA125.Increased cell death or chromosomal breakage after exposure of blood cells to x-rays in the laboratory.Absence of the ATM protein on a Western blot.Abnormal DNA sequence (mutation) of the.A-T gene (ATM) 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:Ataxia (difficulty with control of movement) that is apparent early but worsens in school yearsOculomotor apraxia (difficulty with coordination of head and eye movement when shifting gaze from one place to the next)Involuntary movements (spazims)Problems with infections, especially of the ears, sinuses and lungsIncreased incidence of cancer Slowed rate of growth (weight and/or height)Drooling particularly in young children when they are tired or concentrating on activitiesSlurred speechDiabetes in adolescence or laterPremature changes in hair and skin There is no real cure. Speech therapy is important, teaching children to control air flow to the vocal cords. Gamma-globulin injections may be useful if immunoglobulin levels are sufficiently reduced to weaken the immune system. High-dose vitamin regimens and antioxidants such as alpha lipoic acid also may also be used. ATCP. "A-T Childrens Project." A-T Childrens Project. ATCP, 2015. Web. 2 Mar. 2015. <http://www.atcp.org/WhatIsAT#sthash.2NIXdLew.dpuf>. Immunopedia. "AT." Immunopedia. IIDMM, 2010. Web. 2 Mar. 2015. <http://www.immunopaedia.org.za/index.php?id=76>Medscape. Medscape, 2015. Web. 2 Mar. 2015. <http://emedicine.medscape.com/ article/1113394-treatment>.
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