Ataxia Telangiectasia

The Ataxia Telangiectasia topic includes research on the genetics, diagnosis, and treatment of ataxia telangiectasia, an inherited disease that affects the nervous system, immune system, and other body systems.

Ataxia telangiectasia, also known as A-T or Louis-Bar syndrome, is a rare neurodegenerative disorder that affects the cerebellum, a brain region that controls balance and coordination. A-T is caused by mutations in the ATM gene, which makes a protein important in repairing DNA damage. People with A-T often develop symptoms in childhood, such as unsteady walking, unintentional movements, and slurred speech. A-T tends to worsen over time, and it also increases the risk of infections, diabetes, and cancer.