Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.,
Developmental Medicine and Child Neurology

van Os, N.J.H. (Nienke J H), Haaxma, C. A., van der Flier, M., Merkus, P., van Deuren, M., de Groot, I., … Willemsen, M. (2017). Ataxia-telangiectasia: recommendations for multidisciplinary treatment. Developmental Medicine and Child Neurology (Vol. 59, pp. 680–689). doi:10.1111/dmcn.13424