Ataxia-telangiectasia is a rare disease that affects about 1 in 100,000 people. It can cause a person to lose their balance and coordination. If it’s left untreated, ataxia-telangiectasia can result in vision loss. It can cause serious health problems such as premature aging. If a person has ataxia-telangiectasia, their immune system cannot fight off infections. As a result, they may have to have a long list of medical treatments. They may also suffer from frequent diarrhea.
Ataxia-telangiectasia may make them look different too. For example, people with ataxia-telangiectasia may be taller than average or shorter than average. Some people may also be unable AT disability to eat or drink enough. They may develop tumors called lymphomas. If the disease is not treated, people with ataxia-telangiectasia can die between age 25 and 45.
What causes ataxia-telangiectasia?
Ataxia-telangiectasia is caused by a defective gene called ATM. This gene normally helps control cell growth, repair and remove damaged DNA from cells. It also plays a role in cell death.