Ondine's curse (patient information)
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Editor-in-Chief: C. Michael Gibson, M.S.,M.D. [1] Phone:617-632-7753; Associate Editor-In-Chief: Lakshmi Gopalakrishnan, M.B.B.S.
Synonyms and Keywords: Congenital central hypoventilation syndrome; CCHS; Primary alveolar hypoventilation
Overview
Primary alveolar hypoventilation is a rare disorder of unknown cause in which a person does not take enough breaths per minute. The lungs and airways are normal.
What are the symptoms of Ondine's curse?
- Symptoms are usually worse during sleep, and periods of apnea (episodes of stopped breathing) are usually present.
- Often patients themselves do not complain of shortness of breath during the day.
- Symptoms include:
- Bluish coloration of the skin caused by lack of oxygen
- Daytime drowsiness
- Fatigue
- Lethargy
- Morning headaches
- Swelling of the ankles
- Waking up from sleep unrested
- Waking up many times at night
- Persons with this disease are extremely sensitive to even small doses of sedatives or narcotics, which can make their already inadequate breathing much worse.
What causes Ondine's curse?
- Normally, when the oxygen levels in the blood are low or the carbon dioxide levels are high, there is a signal from the brain to breathe more deeply or more quickly. In people with primary alveolar hypoventilation, this change in breathing does not happen.
- The cause of primary alveolar hypoventilation is unknown. Some patients have a specific genetic defect.
- The disease mainly affects men 20 to 50 years old, although it may also occur in young boys.
When to seek urgent medical care?
- Call for an appointment with your health care provider if symptoms of this disorder develop.
- Seek urgent medical care if bluish skin (cyanosis) occurs.
Diagnosis
- The health care provider will perform a physical exam.
- Tests will be done to rule out other causes. For example, muscular dystrophy can make the rib muscles weak, and emphysema damages the lung tissue itself.
- A small stroke can affect the breathing center in the brain.
- Tests that may be done include:
- Blood gases
- Chest x-ray
- Hematocrit and hemoglobin blood tests
- Lung function tests
- Overnight oxygen level measurements (oximetry)
- Serum bicarbonate
- Sleep study (polysomnography)
Treatment options
- Medications that stimulate the respiratory system may be used but do not always work.
- Mechanical devices that assist breathing, particularly at night, may be helpful in some patients.
- Oxygen therapy may be helpful in a few patients, but may cause worse night symptoms in others.
Where to find medical care for Ondine's curse?
Directions to Hospitals Treating Ondine's curse
What to expect (Outlook/Prognosis)?
Response to treatment varies.
Possible complications
The low blood oxygen level can cause high blood pressure in the lung blood vessels. This can lead to cor pulmonale (right-sided heart failure).
Prevention
- There is no known prevention.
- Patients should avoid using sleeping medications or other medications that may cause drowsiness.