Article

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.
CI - (c) 2017 Mac Keith Press.

Langue : ANGLAIS