Ataxia telangiectasia

Ataxia telangiectasia is an autosomal recessive form of ataxia that is associated with enlarged and prominent blood vessels in the eyes (telangiectases), ataxia, problems with the immune system, and an increased risk for some types of cancers. Age of onset is usually in the first decade of life, although milder later-onset cases have been reported. Ataxia telangiectasia is caused by sequence changes in a gene called “ATM.” Diagnosis of ataxia telangiectasia can be very tricky and may involve many specialized laboratory tests that can only be performed in specific labs. Management includes cancer surveillance. There is some debate about whether unaffected family members who carry a single sequence change might also have a higher risk for some types of cancer.