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'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.
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Nienke J H
NJH
van Os
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Charlotte A
CA
Haaxma
Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Michiel
M
van der Flier
Department of Pediatric Pulmonology, Amalia Children's Hospital and Canisius Wilhelmina Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Peter J F M
PJFM
Merkus
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Marcel
M
van Deuren
Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Imelda J M
IJM
de Groot
Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Centre, Rotterdam, the Netherlands.
Jan
J
Loeffen
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Bart P C
BPC
van de Warrenburg
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Michèl A A P
MAAP
Willemsen
D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000628:therapy*; D006801:Humans