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Ataxia Telangiectasia

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    Description

    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.
    Causes, incidence, and risk factors
    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.
    Symptoms
    Decreased coordination of movements (ataxia) in late childhood
    Ataxic gait (cerebellar ataxia)
    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 (coffee-with-milk-colored spots)
    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 (nystagmus) late in the disease
    Premature graying of the hair
    Seizures
    Sensitivity to radiation, including medical x-rays
    Severe respiratory infections that keep coming back (recurring)
    Signs and tests

    Treatment
    There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms.

    Support Groups
    Ataxia Telangiectasia Children's Project - www.atcp.org
    National Ataxia Foundation (NAF) - www.ataxia.org

    Tags: ataxic gait