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Respiratory system
Respiratory system


Definition:

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.



Alternative Names:

Ondine's curse



Causes, incidence, and risk factors:

The cause is unknown. Current research is looking at how the brains of persons with this disease may be less responsive to carbon dioxide.

The disease primarily affects men 20 to 50 years old. It can also be present in male children.



Symptoms:

Often patients themselves do not complain of being short of breath during the day. Symptoms are usually worse during sleep, and periods of apnea (episodes of stopped breathing) are usually present. Patients with this disease are extremely sensitive to even small doses of sedatives or narcotics, which can make their already inadequate breathing much worse.

Symptoms include:



Signs and tests:

The health care provider will perform a physical exam. Tests will be done to rulle out other causes. For example, muscular dystrophy can make the rib muscles weak, and emphysema damages damaging the lung tissue itself. A a small stroke can affect the breathing center in the brain.

Tests that may be done include:



Treatment:

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.



Support Groups:



Expectations (prognosis):

Response to treatment varies.



Complications:

A possible complication is cor pulmonale (right-sided heart failure).



Calling your health care provider:

Call for an appointment with your health care provider if symptoms of this disorder develop. Seek urgent medical care if bluish skin (cyanosis ) occurs.



Prevention:

There is no known prevention. Patients should avoid using sleeping medications or other medications that may cause drowsiness.



References:

Phillipson EA, Duffin J. Hypoventilation and hyperventilation syndromes. In: Mason RJ, Murray J, VC Broaddus, Nadel J, eds. Textbook of Respiratory Medicine. 3rd ed. Philadelphia, Pa: Saunders Elsevier; 2005:chap 73.




Review Date: 9/2/2008
Reviewed By: Sean O. Stitham, MD, private practice in Internal Medicine, Seattle, Washington; and Benjamin Medoff, MD, Assistant Professor of Medicine, Harvard Medical School, Pulmonary and Critical Care Unit, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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