Ondine's curse (patient information)

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Editor-in-Chief: C. Michael Gibson, M.S.,M.D. [mailto:mgibson@perfuse.org] 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.

Source
http://www.nlm.nih.gov/medlineplus/ency/article/000078.htm