Article
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Orphanet journal of rare diseases - 21 Sept 2020
Trang Ha, Samuels Martin, Ceccherini Isabella, Frerick Matthias, Garcia-Teresa Maria Angeles, Peters Jochen, Schoeber Johannes, Migdal Marek, Markstrom Agneta, Ottonello Giancarlo, Piumelli Raffaele, Estevao Maria Helena, Senecic-Cala Irena, Gnidovec-Strazisar Barbara, Pfleger Andreas, Porto-Abal Raquel, Katz-Salamon Miriam
Abstract excerpt
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 patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include...
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