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Ataxia-Telangiectasia: A Case Report and a Brief Review
Abulkalam A Sirajwala1, Shahin Khan1, Vaishnavi M Rathod1
1Department of General Medicine, Sir Sayajirao General Hospital and Medical College Baroda, Vadodara, IND.
Cureus
|June 23, 2023
Summary
Ataxia-telangiectasia (A-T) is a rare genetic disorder affecting multiple systems. Diagnosis can be challenging due to varied symptoms, and current treatments offer limited prognosis improvement.
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Ataxia-telangiectasia (A-T) is a rare inherited syndrome characterized by cerebellar ataxia and oculocutaneous telangiectasias.
- Serious complications include immune deficiencies, malignancies, and radiation sensitivity, impacting quality and length of life.
- Diagnosis can be complex due to multi-system involvement and atypical presentations like dystonic head movements.
