A-T Disorder

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updated
March 2003

Ataxia-telangiectasia (A-T):
“A-TACK-see-uh – Te-lan-jeck-TAY-zee-uh”

• general description of A-T disorder and symptoms
• detailed scientific information
• connection between A-T and breast cancer

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General Description of A-T and its Symptoms

• a 100-fold increased risk of cancer
• hand tremors and extreme fatigue
• dyscoordination of eye muscles making reading functionally inadequate
• high sensitivity to radiation including X-rays
• increased risk of respiratory infections
• need for a full time aide in school for handwriting and note taking
• wheelchair use by age 10
• cognition is NOT affected

These and other progressive symptoms are the results of A-T, the insidious and multi-system genetic disorder that attacks the neurological and immune systems of children who carry two copies of a defective (mutated) A-T gene – one copy from each parent. There are about 500 children in the U.S. with A-T.

An estimated 1% (2.5 million in the U.S.) of the general population carry one of the defective A-T genes. Carriers of one copy of this gene do not develop A-T, but have a significantly increased risk of cancer. This makes the A-T gene one of the most important cancer-related genes identified to date.

A-T affects energy, immune resistance, balance, handwriting, clear speech, and coordination of eye movements. However, A-T does NOT affect cognition, so children with A-T are of normal intelligence.

Toddlers with A-T are usually “wobbly” walkers. In their preschool years, children with A-T begin to stumble and fall. By age eight, most children with A-T use a walker, and by age ten they need a wheelchair. Over 38% of children with A-T develop cancer. Mothers of children with A-T have a nine-fold increased risk of breast cancer; therefore, what is learned about A-T will also contribute to the prevention and treatment of breast cancer.