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2 Ιουλ 2024 · What causes congenital central hypoventilation syndrome? CCHS is caused by mutations in the PHOX2B gene, which is involved in the development of the nervous system in utero.
14 Μαρ 2023 · What causes congenital central hypoventilation syndrome? A mutation in the PHOX2B gene causes CCHS. The gene helps make a protein important to the production of nerve cells during fetal development. Most cases of CCHS involve a sporadic (new, sudden) mutation, but the mutation can be inherited.
4 Αυγ 2017 · Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO2 receptors in the medulla.
18 Αυγ 2016 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene.
21 Σεπ 2020 · 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.
22 Μαρ 2024 · In children, the most common cause of hypoventilation during sleep is obstructive sleep apnea (OSA), which is discussed in separate topic reviews. (See "Evaluation of suspected obstructive sleep apnea in children" and "Management of obstructive sleep apnea in children".)
21 Σεπ 2020 · 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.
