Is central hypoventilation syndrome curable?
Is central hypoventilation syndrome curable?
There is no cure or gene therapy for congenital central hypoventilation syndrome (CCHS). Treatment is entirely supportive and is based on assessment of respiratory impairment, cardiac dysfunction, and gastrointestinal dysfunction, as well as surveillance for underlying oncologic manifestations.
What is the genetic cause of central congenital alveolar hypoventilation?
The underlying cause of CCHS is mutation in the PHOX2B gene. Most children with CCHS have mutations of the PHOX2B gene called poly-alanine repeat expansion mutations (PARMs).
What causes alveolar hypoventilation?
Neuromuscular diseases that can cause alveolar hypoventilation include myasthenia gravis, amyotrophic lateral sclerosis, Guillain-Barré syndrome, and muscular dystrophy. Patients with neuromuscular disorders have rapid, shallow breathing secondary to severe muscle weakness or abnormal motor neuron function.
What is curse disease?
Patients with the curse are unable to maintain regular breathing during sleep, and is often considered a genetic, extreme form of sleep apnea. Those with the syndrome hypoventilate, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood.
What happens to the body during hypoventilation?
Hypoventilation is breathing that is too shallow or too slow to meet the needs of the body. If a person hypoventilates, the body’s carbon dioxide level rises. This causes a buildup of acid and too little oxygen in the blood. A person with hypoventilation might feel sleepy.
How is hypoventilation syndrome treated?
Hypoventilation Syndromes Treatment & Management
- Approach Considerations.
- Oxygen Therapy.
- Respiratory Stimulants.
- Weight Loss.
- Bariatric Surgery.
- Diaphragm Pacing.
- ICU Admission.
- Outpatient Care.
How is hypoventilation syndrome diagnosed?
Polysomnography with continuous nocturnal carbon dioxide monitoring is the gold standard for the evaluation of patients suspected of having obesity hypoventilation syndrome (OHS).
How is alveolar hypoventilation treated?
- Oxygen Therapy. Because many patients with hypercapnia also are hypoxemic during the day, oxygen therapy may be indicated.
- Respiratory Stimulants. Respiratory stimulants have been used in alveolar hypoventilation but have limited efficacy.
- Weight Loss.
- Bariatric Surgery.
- Diaphragm Pacing.
- ICU Admission.
- Outpatient Care.
How is alveolar hypoventilation diagnosed?
Tests that may be done include:
- Measuring levels of oxygen and carbon dioxide in the blood (arterial blood gases)
- Chest x-ray or CT scan.
- Hematocrit and hemoglobin blood tests tests to check oxygen carrying ability of red blood cells.
- Lung function tests.
- Overnight oxygen level measurements (oximetry)
- Blood gases.
What is Odin’s curse?
Congenital central hypoventilation syndrome (CCHS), also referred to as Ondine’s curse, is a life-threatening disorder manifesting as sleep-associated alveolar hypoventilation. According to American Thoracic Society (ATS) guidelines, a mutation in the PHOX2B gene is required for the diagnosis of CCHS.
What is Pickwick syndrome?
Obesity-hypoventilation syndrome (OHS), also historically described as the Pickwickian syndrome, consists of the triad of obesity, sleep disordered breathing, and chronic hypercapnia during wakefulness in the absence of other known causes of hypercapnia.
Can hypoventilation cause brain damage?
When asleep this ‘hypoventilation’ causes a progressive build up of carbon dioxide and a reduction in the amount of oxygen in the blood. Although prolonged exposure to low oxygen can cause brain damage and death in some cases, the major risk posed by CCHS is actually respiratory infection due to poor lung inflation.
