Ataxia telangiectasia

background

Ataxia telangiectasia (A-T) is a rare, autosomal recessive disease that progressively damages the brain and causes motor skill development problems. It is a neurodegenerative disease that ultimately leads to death. Most A-T patients die by the age of 20, usually from bronchopulmonary infection. Other patients may die from malignancy (cancer) or from a combination of pulmonary infections and cancer. However, patients who do not develop cancer or chronic respirator problems can live to be 50 to 60 years old.
Symptoms usually develop between the ages of one and five, and they become progressively worse with age. The first signs of A-T include delayed motor skill development, poor balance and slurred speech. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are common characteristics of the disease.
About 20% of A-T patients develop cancer, most frequently acute lymphocytic leukemia or lymphoma. Individuals with A-T have a weakened immune system, which makes them susceptible to infections, particularly recurrent pulmonary infections.
Between 1 out of 40,000 and 1 out of 100,000 people worldwide are diagnosed with A-T each year, according to the National Cancer Institute.
An estimated one percent of the U.S. population, (about 2.5 million people), may be carriers of the ATM (ataxia telangiectasia mutated) gene, which causes the disease. Although, carriers do not have ataxia-telangiectasia, they are more likely to develop cancer (especially breast cancer) than people who do not carry the gene. Carriers may also have an increased risk of heart disease. More research is necessary to understand the reason behind the increased risks of health problems.
The disease does not affect any racial, ethnic or economic group more than another. Both males and females are equally affected.

Related Terms

5-HTP, ataxia telangiectasia mutated, ataxic, AT, ATM, ATM gene, ATM protein, autosomal recessive, Boder-Sedgwick syndrome, breast cancer, bronchopulmonary infection, cancer, carrier, chromosome 11, DNA, DNA testing, genetic disease, genetic disorder, genetic testing, IgA, IgE, immune system, immunocompromised, immunoglobulin, leukemia, lymphocytic, lymphocytic leukemia, Louis-Bar syndrome, neurodegenerative disease, progressive neurodegenerative disease, prenatal testing, pulmonary infections, respiratory infections, spider veins, telangiectasias, weakened immune system.