Ataxia Telangiectasia
Ataxia Telangiectasia (A-T) is a rare genetic disorder that affects the nervous system and immune system. It is caused by mutations in the ATM gene, which plays a crucial role in repairing DNA damage. Individuals with A-T often experience progressive loss of coordination, known as ataxia, and may develop small dilated blood vessels, or telangiectasia, on their skin and eyes.
Symptoms typically appear in early childhood and can include difficulty walking, frequent infections, and an increased risk of certain cancers. There is currently no cure for A-T, but supportive treatments can help manage symptoms and improve quality of life for those affected.