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Genetics of Ataxia Telangiectasia

written by: R. Elizabeth C. Kitchen•edited by: lrohner•updated: 12/31/2010

Do you want to learn more about the genetics of ataxia telangiectasia? Read on to learn more about this disorder.

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    Ataxia telangiectasia is a rare childhood disorder that affects the brain and other areas of the body. Ataxia is a term used to refer to uncoordinated movements, like walking. Telangiectasias are blood vessels that are enlarged just under the skin's surface. They look like red, tiny, spider-like veins. Understanding the genetics of ataxia telangiectasia helps both health care providers, patients, and parents better understand how this disorder occurs and affects patients. This disorder is also known as Louis-Bar syndrome. The incidence rate for this genetic disorder throughout the world is about one in 40,000 to 100,000 people.

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    Through understanding the genetics of ataxia telangiectasia, we know that an ATM gene mutation is the cause of this disorder. This gene works to give the instructions necessary for creating a protein that assists in cell division control and it is also involved in the repair of DNA. When this gene is mutated, the function of the ATM protein is eliminated or reduced. If this protein is absent, cells start to become unstable and then die inappropriately. The cells in the cerebellum are particularly affected. This disorder is inherited in an autosomal recessive pattern.

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    Signs and Symptoms

    During late childhood, patients may experience a jerky gait, ataxic gait, or be unsteady. Other possible signs and symptoms may include:

    • Mental development decreases, stops, or slow after 10 to 12 years of age
    • Skin discoloration on areas exposed to the sun
    • Enlarged blood vessels in the areas of the eyes that are white
    • Hair grays prematurely
    • Radiation sensitivity, including x-rays
    • Delayed walking
    • Skin discoloration
    • Enlarged blood vessels in the ear, nose, knee, and inside of elbow skin
    • Late in the disorder, abnormal or jerky eye movements
    • Seizures
    • Recurring, severe respiratory infections
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    The doctor will start diagnosing this condition by performing a physical exam in which he or she is looking for certain signs, such as:

    • Tonsils, spleen, and lymph nodes below normal size
    • Absent or decreased sexual and physical development
    • Mask-like face
    • Absent or decreased deep tendon reflexes
    • Growth failure
    • Multiple skin texture and coloring changes

    Other diagnostic testing may include:

    • Alpha fetoprotein
    • Carcinoembryonic antigen
    • Glucose tolerance test
    • X-rays may be used to examine thymus gland size
    • B and T cell screen
    • Genetic testing may be performed to look for ATM gene mutations
    • Serum immunoglobulin levels
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    There is no treatment for this disorder, but there are treatments to help alleviate some of the symptoms. Even with treatment, certain complications, such as cancer (like lymphoma), kyphosis, scoliosis, diabetes, progressive movement disorder, and recurrent, severe lung infections may occur. Physical, occupational, and speech and swallowing therapy may benefit patients, as well as assistive devices. Medications may help with cerebellar tremors and drooling. Intravenous immunoglobulin, certain antioxidants, and certain other medications may help patients as well.

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    National Institute of Neurological Disorders and Stroke. (2010). NINDS Ataxia Telangiectasia Information Page. Retrieved on December 5, 2010 from the National Institute of Neurological Disorders and Stroke:

    Genetics Home Reference. (2008). Ataxia-Telangiectasia. Retrieved on December 5, 2010 from Genetics Home Reference: