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Primary alveolar hypoventilation - Symptom

Alternative Names

Ondine's curse

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:

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

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:

Blood gases
Chest x-ray
Hematocrit
Lung function tests
Overnight oxygen leven measurements (oximetry)
Serum bicarbonate
Sleep study (polysomnography)

Respiratory system

Reviewed last on: 9/2/2008
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.

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.

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