منابع مشابه
Ataxia-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 کاملMyoclonus in Ataxia–Telangiectasia
BACKGROUND Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT. CASE REPORT We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous...
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...
متن کاملReversible airway obstruction in children with ataxia telangiectasia.
INTRODUCTION Lung disease is a significant cause of the short life span of ataxia telangiectasia (A-T) patients. Objective lung function measurements are difficult to achieve in A-T. AIM To assess lung function by spirometry in relation to the clinical characteristics of A-T patients followed up at the Israeli Ataxia Telangiectasia National Clinic. PATIENTS AND METHODS Medical and spirometr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Oncall
سال: 2021
ISSN: ['0973-0958', '0973-0966']
DOI: https://doi.org/10.7199/ped.oncall.2021.25