What is ataxia telangiectasia?

Ataxia telangiectasia (A-T) is a rare, inherited disease that affects several organs and systems, including the nervous and the immune systems. Most notably, it causes progressive degeneration of the cerebellum, the part of the brain that controls movement and speech. Symptoms develop in early childhood. Some of the complications of A-T include cancer (typically leukemia or lymphoma), recurrent infections and chronic lung disease.

Symptoms

• Uncoordinated movements (ataxia)

• Poor balance

• Slurred speech

• Feeding and swallowing problems

• Spider veins (telangiectasia) on the whites of the eyes

• Stunted physical growth and sexual development

• Immunodeficiency

• Recurrent respiratory infections

• Sensitivity to X-ray

Diagnosis

• Physical exam

• Laboratory tests, such as measuring levels of alpha-fetoprotein

• Genetic tests (ATM gene)

Treatment

There is no cure for A-T. Treatment involves managing the symptoms. This may include:

• Physical, occupational and/or speech therapies

• Supplemental nutritional support

• Treatment of immunodeficiency

• Timely treatment of infections

When to Call for Help

If your child develops the above symptoms, call your pediatrician.