1. Ataxia Telangiectasia By: Leon Richardson Period 2 5-15-12

2. What is Ataxia Telangiectasia Ataxia-telangiectasia is a rare childhood disease that affects the brain and other parts of the body. Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider- like veins. Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder. The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement. Boys and girls are equally affected.

3. Symptoms of Ataxia Telangiectasia Decreased coordination of movements in late childhood Ataxic gait Jerky gait Unsteady Decreasing mental development, slows or stops after age 10 - 12 Delayed walking Discoloration of skin areas exposed to sunlight Discoloration of skin Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee Enlarged blood vessels in the whites of the eyes Jerky or abnormal eye movements late in the disease Premature graying of the hair Seizures Sensitivity to radiation, including medical x-rays Severe respiratory infections that keep coming back

4. Signs and Tests for Ataxia Telangiectasia Below normal sized tonsils, lymph nodes, and spleen Decreased to absent deep tendon reflexes Delayed or absent physical and sexual development Growth failure Mask-like face Multiple skin coloring and texture changes Alpha fetoprotein B and T cell screen Carcinoembryonic antigen Genetic testing to look for mutations in the ATM gene Glucose tolerance test Serum immunoglobulin levels X-rays to look at the size of the thymus gland

5. Treatments for Ataxia Telangiectasia There is no specific treatment for ataxia- telangiectasia. Treatment is directed at specific symptoms.

6. Prognosis Early death is common, but life expectancy varies. Because persons with this condition are very sensitive to radiation, they should never be given radiation therapy, and no unnecessary x- rays should be done.