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What is Ataxia-Telangiectasia?

Tricia Christensen
Updated Mar 03, 2024
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For parents, getting a diagnosis that their child has ataxia-telangiectasia, is an extraordinarily difficult thing. The disease is neurodegenerative, because portions of the brain which control speech centers, the cerebellum, progressively degenerate, making it difficult for children to speak without slurring, and eventually impossible for children to speak or write. Later, children with ataxia-telangiectasia lose control of most muscular movements, and many are confined to wheelchairs within a few years after the disease is noted.

There are further difficulties with ataxia-telangiectasia. About 70% of children who get the disease will also get cancer, and most children with this condition have poor immune systems, making them particularly prone to respiratory infections. The children who don’t succumb to cancer or disease still have markedly short lifespans. They may live until their early 20s, and a few people with the condition have lived to be 40. In general, the lifespan of a child with this disease is incredibly short.

Despite degeneration of the brain in terms of speech and muscle control, most of these children have average to above average intelligence. In a way this seems even more tragic. Like stroke victims who suffer from ataxia, the inability to speak well or at all, a normal mind must bear the frustration of inability to communicate through regular means, and is fully aware that things that once came easily, like walking, running or playing, are now no longer possible. It is intense and difficult mental suffering that awaits a child with this diagnosis, and their families who cannot forestall the progress of this disease or ever make up to the child what he or she has lost.

The disease is usually diagnosed when a child with ataxia develops telangiectasia, tiny red veins that appear at the corners of the eyes, and sometimes on the cheeks and nose. Telangiectasia is not uncommon in children in perfect health. It is the combination of the condition with ataxia that normally confirms diagnosis.

Sadly, there is no prevention for ataxia-telangiectasia, and no cure. Treatment may consist of giving children gamma-globulin shots to boost their immunity, and giving additional doses of vitamins for the same reason. Should children develop cancer, parents must decide whether to let children go, or to subject children to chemotherapy, which can be particularly challenging since immunities to normal illnesses are low under any circumstances and worse when chemotherapy or radiation is used.

This condition demands more research, more understanding and the development of either cure or prevention. Currently, the progress of the disease is understood, and also the fact that it is inherited recessively. Both parents must have a recessive gene for ataxia-telangiectasia to occur, and even when they do, each child has a 75% chance of not inheriting the disease. For siblings of children with ataxia-telangiectasia, it is usually recommended that they have genetic counseling prior to having children to determine if their partners carry a recessive gene too.

The Health Board is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Tricia Christensen
By Tricia Christensen
With a Literature degree from Sonoma State University and years of experience as a The Health Board contributor, Tricia Christensen is based in Northern California and brings a wealth of knowledge and passion to her writing. Her wide-ranging interests include reading, writing, medicine, art, film, history, politics, ethics, and religion, all of which she incorporates into her informative articles. Tricia is currently working on her first novel.
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Tricia Christensen
Tricia Christensen
With a Literature degree from Sonoma State University and years of experience as a The Health Board contributor, Tricia...
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