Category Archives: Ataxia Telangiectasia

Ataxia telangiectasia (A-T) (Boder-Sedgwick syndrome or Louis–Bar syndrome[2]:555) is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.

A-T affects the cerebellum (the body’s motor coordination control center) and also weakens the immune system in about 70% of the cases, leading to respiratory disorders and increased risk of cancer. It first appears in early childhood (the toddler stage) with symptoms such as lack of balance, slurred speech, and increased infections. Because all children at this age take time to develop good walking skills, coherent speech, and an effective immune system, it may be some years before A-T is properly diagnosed.

AT is caused by a defect in the ATM gene, which is responsible for recognizing and correcting errors in duplicating DNA when cells divide, and in destroying the cells when the errors can’t be corrected. The gene normally repairs double-stranded DNA breaks. – Wikipedia