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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.
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.
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 CO 2 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.
28 Ιαν 2004 · Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control.
Congenital central hypoventilation syndrome (CCHS), previously referred to with the expression ‘Ondine’s curse’, is a rare life-threatening disease, first described in infants in 1970 by Mellins et al. 1 2 With no gender preference and an estimated incidence of 1 in 50 000–200 000 live births, it is defined by an autonomic nervous system (ANS) f...
Trochet and colleagues 31 have proposed that onset of hypoventilation after the newborn period (28 days of life) be classified as late-onset ... Reports of CCHS in identical twins, 33 female siblings, 3 and male–female half siblings, 34 as well as ... Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate ...
