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Ataxia‐telangiectasia: recommendations for multidisciplinary treatment
Author(s) -
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
Publication year - 2017
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.13424
Subject(s) - ataxia telangiectasia , medicine , neurology , guideline , intensive care medicine , disease , telangiectasia , pediatrics , immunodeficiency , pulmonology , dermatology , pathology , immunology , psychiatry , dna damage , dna , genetics , immune system , biology
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.