Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

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...

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Bibliographic Details
Published in:Developmental medicine and child neurology 2017-07, Vol.59 (7), p.680-689
Main Authors: Os, Nienke J H, Haaxma, Charlotte A, Flier, Michiel, Merkus, Peter J F M, Deuren, Marcel, Groot, Imelda J M, Loeffen, Jan, Warrenburg, Bart P C, Willemsen, Michèl A A P
Format: Article
Language:English
Subjects:
Ataxia Telangiectasia - diagnosis
Ataxia Telangiectasia - therapy
Humans
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Summary: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. What this paper adds Recommendations for the clinical management of patients with ataxia‐telangiectasia. Many health issues must be taken into account. This review is commented on by Whitehouse on page 670 of this issue.
ISSN:0012-1622
1469-8749
DOI:10.1111/dmcn.13424