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What is Ataxia-Telangiectasia: Key Insights about?

Ataxia-telangiectasia is a rare autosomal recessive disorder caused by mutations in the ATM gene, leading to immunodeficiency, progressive cerebellar ataxia, and oculocutaneous telangiectasias. Patients are at increased risk for malignancies, and the prognosis is poor due to severe neurologic disability and complications from infections. Early diagnosis and multidisciplinary management can enhance the quality of life for affected individuals.

Author

spotifyglassed

Language

EN