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.
Persons with this disease are extremely sensitive to even small doses of sedatives or narcotics, which can make their already inadequate breathing much worse.
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:
Duffin J, Phillipson EA. Hypoventilation and Hyperventilation Syndromes In: Mason RJ, Broaddus CV, Martin TR, et al. Murray & Nadel's Textbook of Respiratory Medicine. 5th ed. Philadelphia, Pa: Saunders Elsevier; 2010:chap 78.
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