Ataxia telangiectasia: why should the ERS care?
نویسندگان
چکیده
منابع مشابه
Ataxia telangiectasia: why should the ERS care?
Affiliations: Nottingham Children’s Hospital, UK Paediatric National Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK. Imperial College and Royal Brompton Hospital, London, UK. Dept of Paediatrics, Division of Respiratory Medicine, Amalia Children’s Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands. Rare Diseases Service and Pediatric Neurology Unit, Edmond...
متن کاملERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.
Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting ...
متن کاملAtaxia-telangiectasia
Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...
متن کاملAtaxia-telangiectasia.
Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...
متن کاملAtaxia telangiectasia
Onset of the disease is often during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extend); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia. Telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva). Combined immunodeficiency (in 70 %): thymus hy...
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 2015
ISSN: 0903-1936,1399-3003
DOI: 10.1183/13993003.01456-2015