Ataxia-Telangiectasia: Causes and symptoms

The ATM gene is autosomal recessive, meaning the disease occurs only if a defective gene is inherited from both parents. Infants with A-T initially often appear very healthy. At around age two, ataxia and nervous system abnormalities becomes apparent. The root cause of A-T-associated ataxia is cell death in the brain, specifically the large branching cells of the nervous system (Purkinje's cells) which are located in the cerebellum. A toddler becomes clumsy, loses balance easily and lacks muscle control. Speech becomes slurred and more difficult, and the symptoms progressively worsen. Between ages two and eight, telangiectases, or tiny, red "spider" veins, appear on the cheeks and ears and in the eyes.

By age 10-12, children with A-T can no longer control their muscles. Immune system deficiencies become common, and affected individuals are extremely sensitive to radiation. Immune system deficiencies vary between individuals but include lower-than-normal levels of proteins that function as antibodies (immunoglobulins) and white blood cells (blood cells not containing "iron" proteins). The thymus gland, which aids in development of the body's immune system, is either missing or has developed abnormally. Intelligence is normal, but growth may be retarded owing to immune system or hormonal deficiencies. Individuals with A-T are also sometimes afflicted with diabetes, prematurely graying hair, and difficulty swallowing. As the children grow older, the immune system becomes weaker and less capable of fighting infection. In the later stages, recurrent respiratory infections and blood cancers, such as leukemia or lymphoma, are common.

— Bethanne Black