Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

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.

Treatable Movement Disorders of Infancy and Early Childhood

“…Ataxiatelangiectasia [102][103][104][105]109 x X x Oculomotor apraxia, immunodeficiency, malignancy (typically hematologic), pulmonary failure…”

“…Symptomatic treatments for ataxia include amantadine, 105 4-aminopyridine, 106 and short courses of steroids, 107,108 though symptoms recur following steroid cessation. 109 Summary: In children with chronic progressive ataxias, serum vitamin E levels and serum α-fetoprotein levels should always be checked as AVED is treatable and ataxia-telangiectasia requires close surveillance for the serious associated comorbidities. Cerebral folate deficiency, though rare, is also a consideration in children with regression, seizures, and onset of ataxia in infancy.…”

Bloqueo auriculoventricular completo y asistolia en un niño con ataxia-telangiectasia

“…1 Está caracterizada, en sus formas completas, por un cuadro de ataxia cerebelosa progresiva, telangiectasias en la piel y las conjuntivas, defectos inmunológicos y una mayor tendencia a l d e s a r r o l l o d e t u m o r e s m a l i g n o s p o r hipersensibilidad a las radiaciones ionizantes. [2][3][4] Se describe la aparición de una arritmia maligna en un paciente de 14 años con un diagnóstico de AT y en remisión completa de linfoma no Hodgkin B de alto grado.…”

Multidisciplinary care of children and young people with ataxia‐telangiectasia

“…The article by van Os et al 1 reviews the clinical features of classical ataxia-telangiectasia and mild variant ataxia-telangiectasia, and provides evidence-based and/or expert consensus recommendations. The article by van Os et al 1 reviews the clinical features of classical ataxia-telangiectasia and mild variant ataxia-telangiectasia, and provides evidence-based and/or expert consensus recommendations.…”

“…The recent recommendations for multidisciplinary management from an expert clinical and research team in the Netherlands is therefore timely and welcome. The article by van Os et al 1 reviews the clinical features of classical ataxia-telangiectasia and mild variant ataxia-telangiectasia, and provides evidence-based and/or expert consensus recommendations. It covers neurological, immunological, infection, lung disease, oncological, endocrine, and nutritional aspects, and the challenges of providing anaesthetic and perioperative care safely to people with ataxia-telangiectasia.…”