Ataxia–telangiectasia
a rare, neurodegenerative, autosomal recessive human disease causing severe disability
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis-Bar syndrome, is a rare, neurodegenerative disease causing 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 many parts of the body:
It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination.
It weakens the immune system, causing a predisposition to infection.
It prevents the repair of broken DNA, increasing the risk of cancer.
Symptoms most often first appear in early childhood (the toddler stage) when children begin to sit or walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still, or sitting. In late preschool and early school age, they develop difficulty naturally moving their eyes from one place to the next (oculomotor apraxia). They develop slurred or distorted speech and swallowing problems. Some have an increased number of respiratory tract infections (ear infections, sinusitis, bronchitis, and pneumonia).
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This entry incorporates text from “Ataxia–telangiectasia” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.