BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuPrimary alveolar hypoventilationOndine's curse; Ventilatory failure; Diminished hypoxic ventilator drive; Diminished hypercapnic ventilator drivePrimary alveolar hypoventilation is a rare disorder in which a person does not take enough breaths per minute. The lungs and airways are normal. Causes Normally, when the oxygen level in the blood is low or the carbon dioxide level is high, there is a signal from the brain to breathe more deeply or quickly. In people with primary alveolar hypoventilation, this change in breathing does not happen.The cause of this condition is unknown. Some people have a specific genetic defect.The disease mainly affects men 20 to 50 years old. It may also occur in children. Symptoms Symptoms are usually worse during sleep. Episodes of stopped breathing (apnea) often occur while sleeping. Often there is no shortness of breath during the day.ApneaBreathing that stops from any cause is called apnea. Slowed breathing is called bradypnea. Labored or difficult breathing is known as dyspnea....Read Article Now Book Mark Article Symptoms include:Bluish coloration of the skin caused by lack of oxygen (cyanosis) Bluish coloration of the skinA bluish color to the skin or mucous membrane is usually due to a lack of oxygen in the blood. The medical term is cyanosis.ImageRead Article Now Book Mark Article CyanosisA bluish color to the skin or mucous membrane is usually due to a lack of oxygen in the blood. The medical term is cyanosis.ImageRead Article Now Book Mark Article Daytime drowsiness Fatigue FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.Read Article Now Book Mark Article Morning headaches Swelling of the ankles Waking up from sleep unrested Waking up many times at night People with this disease are very sensitive to even small doses of sedatives or narcotics. These drugs can make their breathing problem much worse. Exams and Tests The health care provider will perform a physical exam and ask about symptoms.Tests will be done to rule out other causes. For example, muscular dystrophy can make the rib muscles weak, and chronic obstructive pulmonary disease (COPD) damages the lung tissue itself. A small stroke can affect the breathing center in the brain.Tests that may be done include:Measuring levels of oxygen and carbon dioxide in the blood (arterial blood gases) Arterial blood gasesBlood gases are a measurement of how much oxygen and carbon dioxide are in your blood. They also determine the acidity (pH) of your blood.ImageRead Article Now Book Mark Article Chest x-ray or CT scan Chest x-rayA chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.ImageRead Article Now Book Mark Article Hematocrit and hemoglobin blood tests to check oxygen carrying ability of red blood cells HematocritHematocrit is a blood test that measures how much of a person's blood is made up of red blood cells. This measurement depends on the number of and s...ImageRead Article Now Book Mark Article HemoglobinHemoglobin is a protein in red blood cells that carries oxygen. The hemoglobin test measures how much hemoglobin is in your blood.ImageRead Article Now Book Mark Article Lung function tests Lung function testsPulmonary function tests are a group of tests that measure breathing and how well the lungs are functioning.ImageRead Article Now Book Mark Article Overnight oxygen level measurements (oximetry) Sleep study (polysomnography) PolysomnographyPolysomnography is a sleep study. This test records certain body functions as you sleep, or try to sleep. Polysomnography is used to diagnose sleep...Read Article Now Book Mark Article Treatment Medicines 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 people. Oxygen therapy may help in a few people, but may worsen night symptoms in others.RespiratoryThe words "respiratory" and "respiration" refer to the lungs and breathing.ImageRead Article Now Book Mark Article Outlook (Prognosis) Response to treatment varies. Possible Complications Low blood oxygen level can cause high blood pressure in the lung blood vessels. This can lead to cor pulmonale (right-sided heart failure).Cor pulmonaleCor pulmonale is a condition that causes the right side of the heart to fail. Long-term high blood pressure in the arteries of the lung and right ve...ImageRead Article Now Book Mark Article When to Contact a Medical Professional Contact your provider if you have symptoms of this disorder. Seek medical care right away if bluish skin occurs. Prevention There is no known prevention. You should avoid using sleep medicines or other drugs that can cause drowsiness.Open ReferencesReferencesLumb A, Thomas C. Control of breathing. In: Lumb A, Thomas C, eds. Nunn and Lumb's Applied Respiratory Physiology. 9th ed. Philadelphia, PA: Elsevier; 2021:chap 4.Malhotra A, Powell F. Disorders of ventilatory control. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 80.Weinberger SE, Cockrill BA, Mandel J. Disorders of ventilatory control. In: Weinberger SE, Cockrill BA, Mandel J, eds. Principles of Pulmonary Medicine. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 18.AllVideoImagesTogRespiratory system - illustration Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs.Respiratory systemillustrationRespiratory system - illustration Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs.Respiratory systemillustrationRelated Information Breathing - slowed or stopped(Symptoms)Obesity hypoventilation syndrome (OHS)(Condition)Cor pulmonale(Condition)Heart failure - InDepth(In-Depth) Review Date: 7/31/2022 Reviewed By: Denis Hadjiliadis, MD, MHS, Paul F. Harron Jr. Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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Primary alveolar hypoventilationOndine's curse; Ventilatory failure; Diminished hypoxic ventilator drive; Diminished hypercapnic ventilator drivePrimary alveolar hypoventilation is a rare disorder in which a person does not take enough breaths per minute. The lungs and airways are normal. Causes Normally, when the oxygen level in the blood is low or the carbon dioxide level is high, there is a signal from the brain to breathe more deeply or quickly. In people with primary alveolar hypoventilation, this change in breathing does not happen.The cause of this condition is unknown. Some people have a specific genetic defect.The disease mainly affects men 20 to 50 years old. It may also occur in children. Symptoms Symptoms are usually worse during sleep. Episodes of stopped breathing (apnea) often occur while sleeping. Often there is no shortness of breath during the day.ApneaBreathing that stops from any cause is called apnea. Slowed breathing is called bradypnea. Labored or difficult breathing is known as dyspnea....Read Article Now Book Mark Article Symptoms include:Bluish coloration of the skin caused by lack of oxygen (cyanosis) Bluish coloration of the skinA bluish color to the skin or mucous membrane is usually due to a lack of oxygen in the blood. The medical term is cyanosis.ImageRead Article Now Book Mark Article CyanosisA bluish color to the skin or mucous membrane is usually due to a lack of oxygen in the blood. The medical term is cyanosis.ImageRead Article Now Book Mark Article Daytime drowsiness Fatigue FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.Read Article Now Book Mark Article Morning headaches Swelling of the ankles Waking up from sleep unrested Waking up many times at night People with this disease are very sensitive to even small doses of sedatives or narcotics. These drugs can make their breathing problem much worse. Exams and Tests The health care provider will perform a physical exam and ask about symptoms.Tests will be done to rule out other causes. For example, muscular dystrophy can make the rib muscles weak, and chronic obstructive pulmonary disease (COPD) damages the lung tissue itself. A small stroke can affect the breathing center in the brain.Tests that may be done include:Measuring levels of oxygen and carbon dioxide in the blood (arterial blood gases) Arterial blood gasesBlood gases are a measurement of how much oxygen and carbon dioxide are in your blood. They also determine the acidity (pH) of your blood.ImageRead Article Now Book Mark Article Chest x-ray or CT scan Chest x-rayA chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.ImageRead Article Now Book Mark Article Hematocrit and hemoglobin blood tests to check oxygen carrying ability of red blood cells HematocritHematocrit is a blood test that measures how much of a person's blood is made up of red blood cells. This measurement depends on the number of and s...ImageRead Article Now Book Mark Article HemoglobinHemoglobin is a protein in red blood cells that carries oxygen. The hemoglobin test measures how much hemoglobin is in your blood.ImageRead Article Now Book Mark Article Lung function tests Lung function testsPulmonary function tests are a group of tests that measure breathing and how well the lungs are functioning.ImageRead Article Now Book Mark Article Overnight oxygen level measurements (oximetry) Sleep study (polysomnography) PolysomnographyPolysomnography is a sleep study. This test records certain body functions as you sleep, or try to sleep. Polysomnography is used to diagnose sleep...Read Article Now Book Mark Article Treatment Medicines 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 people. Oxygen therapy may help in a few people, but may worsen night symptoms in others.RespiratoryThe words "respiratory" and "respiration" refer to the lungs and breathing.ImageRead Article Now Book Mark Article Outlook (Prognosis) Response to treatment varies. Possible Complications Low blood oxygen level can cause high blood pressure in the lung blood vessels. This can lead to cor pulmonale (right-sided heart failure).Cor pulmonaleCor pulmonale is a condition that causes the right side of the heart to fail. Long-term high blood pressure in the arteries of the lung and right ve...ImageRead Article Now Book Mark Article When to Contact a Medical Professional Contact your provider if you have symptoms of this disorder. Seek medical care right away if bluish skin occurs. Prevention There is no known prevention. You should avoid using sleep medicines or other drugs that can cause drowsiness.Open ReferencesReferencesLumb A, Thomas C. Control of breathing. In: Lumb A, Thomas C, eds. Nunn and Lumb's Applied Respiratory Physiology. 9th ed. Philadelphia, PA: Elsevier; 2021:chap 4.Malhotra A, Powell F. Disorders of ventilatory control. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 80.Weinberger SE, Cockrill BA, Mandel J. Disorders of ventilatory control. In: Weinberger SE, Cockrill BA, Mandel J, eds. Principles of Pulmonary Medicine. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 18.