Central Congenital Hypoventilation Syndrome
What is CCHS?
Many people around the world stop breathing when they go to sleep. Why? It’s because they have a syndrome called Central Congenital Hypoventilation Syndrome or Ondine’s Curse. What is this? Congenital central hypoventilation syndrome (CCHS) is a rare syndrome, present from birth, and is defined as the failure of automatic control of breathing.. Some may only have apnea when asleep, but in some severe cases they may experience apnea while awake. About 300 children worldwide have this syndrome. History:
In a French folktale, a nymph named Ondine was a water goddess. Like all nymphs and mermaids, if they was to fall in love with a mortal and bears his child, then they would age like a mortal. Meaning they would lose their everlasting beauty. Ondine ends falling in love with a mortal, and a year into the marriage, she bears a son. Then Ondine finds out that the mortal has been unfaithful with his former fiancé. Ondine puts a curse on him, saying for so long he is wake, he shall breathe. But if he shall ever fall into sleep, breathe will desert him. This is where the name Ondine’s curse is from. Causes:
CCHS is caused by mutations of the PHOX2B gene. The PHOX2B gene provided instructions for making a protein that acts early in development to help promote the formation of nerve cells and regulate the process by which the neurons mature to carry out specific functions. 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. Children who have CCHS there is no history in their family of this syndrome. CCHS is exhibited typically as a congenital disorder, but in rare can result from severe brain or spinal trauma, which can result from automobile accident, stroke or as a complication of neurosurgery. In one case a woman was diagnosed with CCHS because of her chronic alcoholism. Symptoms:
Some symptoms that victims may experience are: shallow breathing, night apnea, brain damage, hypoxemia,...
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