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November 16, 2019
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May 26, 2020
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May 31, 2020
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Abstract

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder linked to mutations in the ATM gene, and is characterized by neurodegeneration with an early onset cerebellar syndrome, hyperkinetic movement disorders, neuropathy, and oculocutaneous telangiectasia. Immunodeficiency, pulmonary disease, growth failure, diabetes mellitus, increased malignancy risk and hypersensitivity to ionizing radiation complicate the clinical picture. Serum alpha-fetoprotein levels are increased in patients with A-T and can therefore serve as a diagnostic marker for the disease. In resource-limited settings, diagnosis and management of patients with a rare and complex disorder such as A-T may be extremely challenging. This expert opinion-based guideline aims to give an overview of diagnosis and management of A-T in resource-limited settings, by prioritizing different options based on medical necessity, availability, and costs.

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Copyright (c) 2020 Nienke J.H. van Os, Koen J van Aerde, Judith van Gaalen, Peter J Merkus, Laura Silveira-Moriyama, Tajul A Tajudin, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Marieke C Dekker, Michèl A.A.P. Willemsen

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van Os, N. J., van Aerde, K. J., van Gaalen, J., Merkus, P. J., Silveira-Moriyama, L., Tajudin, T. A., … Willemsen, M. A. (2020). Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings. Journal of the International Child Neurology Association, 1(1). https://doi.org/10.17724/jicna.2020.181
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