Synonyms

• 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.

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.
• Further content available for subscribers only.

Causes

• Content available for subscribers only.

Symptoms

• Content available for subscribers only.

Complications

• Content available for subscribers only.

Diagnosis

• Content available for subscribers only.

Treatment

• Content available for subscribers only.

Integrative Therapies

• Content available for subscribers only.

Prevention

• Content available for subscribers only.

Author Information

• Content available for subscribers only.

Bibliography

• Content available for subscribers only.