Ataxia Telangiectasia

Ataxia Telangiectasia is a rare genetic disorder that affects the nervous system, immune system, and other parts of the body. It causes problems with coordination and balance (ataxia), along with small, sun-damaged blood vessels called telangiectasias, especially visible in the eyes and skin. The condition results from a mutation in a gene responsible for repairing DNA damage, leading to progressive neurological decline and weakened immune responses. It often appears in early childhood and can increase the risk of cancers. While there’s no cure, management focuses on supportive treatments to improve quality of life.