Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

Abstract:

: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.

journal_name

Dev Med Child Neurol

authors

van Os NJH,Haaxma CA,van der Flier M,Merkus PJFM,van Deuren M,de Groot IJM,Loeffen J,van de Warrenburg BPC,Willemsen MAAP,A-T Study Group.

doi

10.1111/dmcn.13424

subject

Has Abstract

pub_date

2017-07-01 00:00:00

pages

680-689

issue

7

eissn

0012-1622

issn

1469-8749

journal_volume

59

pub_type

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