| Literature DB >> 28318010 |
Nienke J H van Os1, Charlotte A Haaxma1, Michiel van der Flier2, Peter J F M Merkus3, Marcel van Deuren4, Imelda J M de Groot5, Jan Loeffen6, Bart P C van de Warrenburg1, Michèl A A P Willemsen1.
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.Entities:
Mesh：
Year: 2017 PMID： 28318010 DOI： 10.1111/dmcn.13424
Source DB: PubMed Journal: Dev Med Child Neurol ISSN： 0012-1622 Impact factor: 5.449