Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the...

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Main Authors: Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal, Miriam Katz-Salamon
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Central hypoventilation
Dysautonomia
Hirschsprung disease
Neural crest tumour
Long-term ventilation
PHOX2B
Online Access:http://link.springer.com/article/10.1186/s13023-020-01460-2

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http://link.springer.com/article/10.1186/s13023-020-01460-2

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