Ondine's curse, central alveolar hypoventilation syndrome, or primary alveolar hypoventilation, is a respiratory disorder that is fatal if untreated. Persons afflicted with Ondine's curse are unable to breathe without conscious intervention; if they fall asleep, they will die. Its name is a reference to the myth of Ondine, who cursed her adulterous husband that he would stop breathing and die if he ever fell asleep. more...
This disorder is associated with a malfunction of the nerves that control involuntary body functions (autonomic nervous system) and abnormal development of early embryonic cells that form the spinal cord (neural crest). The abnormal neural crest development can lead to other abnormalities such as absent or impaired bowel function (Hirschsprung's disease). Most affected individuals have an abnormality in PHOX2B or other genes.
Most people with congenital Ondine's curse do not survive infancy, though they can be kept alive with a ventilator. It was first described in 1962 by Severinghaus and Mitchell in three patients following surgery to the upper cervical spinal cord and brainstem.
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