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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.
What causes CCHS? CCHS is caused by a mutation (change) in the PHOX2B gene. In most cases, the change happens at random. The change is not anyone’s fault. What are the symptoms of CCHS? Symptoms of CCHS can include: Reduced or shallow breathing, especially during sleep. Blue color around the lips or in the skin, especially during sleep.
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.
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.
Congenital Central Hypoventilation syndrome (CCHS) is a condition affecting how the autonomic nervous system manages breathing. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of congenital central hypoventil.
