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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.
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.
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 · Hypoventilation (ventilatory insufficiency) can result from disorders of the brain, spinal cord, nerves, muscles, heart, lungs, or airway. Sleep-related hypoventilation is a clinical pattern in which the ventilatory insufficiency occurs primarily during sleep.
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.
18 Αυγ 2016 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. 1 CCHS patients usually present in the newborn period with apnea, hypoxemia, and hypercapnia without clinical signs of respiratory compromise that occur and are most ...
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of failure of automatic control of breathing and dysfunction of autonomic nervous system. 1,2,3 It is caused by a mutation in the PHOX2B gene that plays an important role in the migration of neural crest cells and development of the autonomic nervous system. 4,5 The ...
