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Revista Medicina - Universidad Francisco Marroquín
Revista de la Facultad de Medicina

Vol. 1 No. 35 (2023)

Familial Ataxia-Telangiectasia: A case series

Case reports
DOI: https://doi.org/10.37345/23045329.v1i35.108
Published: 2023-11-20

Abstract

Ataxia telangiectasia (A-T) is an autosomal recessive disease (OMIM #208900) with severe neurological involvement typically with cerebellar ataxia as the first presenting symptom.  It is caused by a mutation in the ataxia telangiectasia mutated (ATM) gene that results in a protein that impairs the repair of damaged DNA. It does not depend on race or ethnicity, affecting males and females equally. However, consanguinity significantly increases its incidence. This is a descriptive observational study of case report type, its objective is to present three siblings with Ataxia Telangiectasia, a brief description of A-T and how these patients exemplify the presentation of A-T along different ages in the same family.

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  • Anna Yurrita
    Catedrático UFM
Palabras clave: Ataxia Telangectasias ATM

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How to Cite

Yurrita, A. (2023). Familial Ataxia-Telangiectasia: A case series. Revista De La Facultad De Medicina, 1(35), 70–78. https://doi.org/10.37345/23045329.v1i35.108

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