Ataxia-telangiectasia (A-T) is a rare, inherited genetic disorder that affects the nervous system, immune system, and other body systems. It is not a form of cancer. A-T is caused by a mutation in the ATM gene, which is responsible for producing a protein that helps repair damaged DNA.
People with A-T often experience problems with balance and coordination, as well as an increased risk of developing certain types of cancer, such as lymphoma and leukemia. A-T can also cause a weakened immune system, making it harder for the body to fight off infections. Over time, the disorder can cause a range of other problems, such as respiratory issues, difficulty swallowing, and delayed development.
A-T is usually diagnosed in early childhood, and there is currently no cure. Treatment focuses on managing symptoms and preventing complications. This may include physical therapy, medications to control seizures, and immunizations to protect against infections. In some cases, a stem cell transplant may be recommended.
Ataxia-telangiectasia is a serious, complex disorder, but with early diagnosis and appropriate treatment, people with A-T can lead full lives.