Ondine's Curse, or Congenital Central Hypoventilation Syndrome, is a rare genetic disease in which you may stop breathing in your sleep, and eventually die. What are the causes and symptoms of Ondine's curse? What is the treatment of people with congenital central hypoventilation syndrome?

Congenital central hypoventilation syndrome(CCHS), orOndine's curseor primary alveolar hypoventilation, is a rare genetic disease whose essence is a disorder breath control. Breathing is not an automatic process for patients affected by Ondine's curse, so they must remember to breathe.

The name of the disease is inspired by the name of a goddess from Norse mythology. According to legend, Ondine falls in love with a mortal by whom she is betrayed. Then a curse is placed on him, and he has to remember about Ondine all the time in order to be able to breathe. When the lover falls asleep and stops thinking about the goddess, he cannot breathe and dies.

Congenital Hypoventilation Syndrome (Ondine's Curse) - Causes

The cause of congenital hypoventilation syndrome is a genetic mutation - probably a mutation in the PHOX2B homeotic gene in the 4p12 locus, which leads to underdevelopment of the respiratory center in the brain.

Congenital Hypoventilation Syndrome (Ondine's Curse) - symptoms

The symptom of the disease is acute respiratory failure, which is the result of hypoventilation, i.e. weakening of the respiratory function of the lungs. The consequence of respiratory failure is a reduced amount of oxygen in the blood, and hence - hypoxia of the body (hypoxia), as well as insufficient elimination of carbon dioxide from the body, manifested by an increase in the partial pressure of carbon dioxide in the arterial blood (hypercapnia).

In the course of the disease, symptoms may also appear, such as visible work of additional respiratory muscles, increased respiratory rate, shortness of breath, cyanosis, repeated infections of the respiratory system, change of voice, tachycardia. Ondine's curse is also characterized by weakness and easy fatigue, impaired concentration and morning headaches. However, the most troublesome are problems falling asleep, frequent waking up at night and nightmares, because problems withbreathing intensify at night and then may be the cause of death.

In addition, patients often suffer from dysfunction of the autonomic nervous system (esophageal motility disorders, fainting due to arrhythmias, excessive sweating). They can also develop conditions such as neuroblastoma or Hirschsprung's disease. Some patients have also been diagnosed with the so-called Haddad's syndrome, i.e. the coexistence of the above-mentioned symptoms with minor changes in the appearance of the patients' faces.

It is worth knowing that patients react poorly to alcohol - some patients, after drinking high-percentage alcohol, fell into a coma or died due to inhibition of the respiratory center.

Congenital Hypoventilation Syndrome (Ondine's Curse) - treatment

Unfortunately, causal treatment is not possible in the case of genetic diseases. In Ondine's curse, the only form of therapy is substitute breathing with the help of electric fans or respirators, which are essential during sleep and sometimes during the day as well. When patients cannot breathe at all on their own, they usually undergo positive pressure mechanical ventilation via a tracheotomy 24 hours a day. Oxygen therapy is also used as supportive treatment.

Important

Congenital Hypoventilation Syndrome (Ondine's Curse) - a novel surgery that allows you to breathe at night without a respirator

Doctors from the University Teaching Hospital in Olsztyn were the first in Poland to perform an innovative operation on a 13-year-old patient with Ondine's curse in December 2022. The aim of the operation is to restore breathing during the night and it involves implanting electrodes on the phrenic nerves under the skin of the neck. They will be connected (wirelessly) to a small stimulator outside the body. The pacemaker will stimulate the electrodes and these will stimulate the body to breathe at night.

More about the disease can be found, among others from the American CCHS Association of People with CCHS website: www.cchsnetwork.org.

EDITORIAL 24 HOURS - Curse of Ondine

Source: NEW TV, 24 HOURS ONLINE.PL

Category:

Genetic diseases