Congenital central hypoventilation syndrome – HealthStatus

Congenital central hypoventilation syndrome (CCHS), is a rare disorder that affects only about 1000 to 1200 people worldwide. CCHS affects the body’s ability to breathe normally. This is because the condition affects the autonomic nervous system that controls a lot of the automatic functions the body does, such as breathing, controlling the bladder, controlling temperature, and sensing oxygen levels or carbon dioxide in the blood.

CCHS is caused by a genetic mutation. This is a life-threatening syndrome if left untreated. Currently, it is a lifelong condition with no cure. CCHS affects both men and women equally. Since it is a genetic mutation, it can be passed on from parents, but it has been shown that it can be a sporadic gene mutation. If one parent has a CCHS gene mutation, they have a 50% chance of passing it on to their children.


The gene mutation is present before birth, but if parents don’t know if they have a CCHS gene mutation, a diagnosis of CCHS is sometimes missed until after infancy. One of the first signs or symptoms of CCHS is difficulty breathing. The breathing function may or may not be spontaneous, especially during sleep. People with CCHS may also have difficulty eating, or nursing due to acid reflux. Absence or impairment of bowel function is another sign of CCHS. This can lead to severe constipation, intestinal obstruction and colon enlargement. Learning difficulties or neurological problems can also be present in people with CCHS. The severity or extreme of these depends on the person and the severity of the CCHS. People with CCHS also have a reduced response to light that causes them to have abnormal pupils.


The main way to know if you have CCHS is to have genetic testing. Once the mutated gene is confirmed, other studies may need to be done to make sure you don’t have any other disorders that may accompany CCHS. A sleep study may be needed to diagnose dyspnea. Respiratory, cardiac, and neurological tests may be needed to rule out other disorders.

Other disorders commonly seen in people with CCHS are congenital myopathy, congenital myasthenia gravis, and Moebius syndrome. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysfunction is a condition related to but distinct from CCHS. It has many of the same symptoms, but the weight increases rapidly up to 20 pounds in a short time.

A quick diagnosis is important so that treatment can take place immediately. If left untreated CCHS can cause damage to the body and nerve functions due to reduced oxygen levels for a long time.


There is no cure for CCHS. Treatment focuses on providing breathing support. This can be done with a respirator or ventilator. Some younger patients with CCHS may require mechanical ventilation 24 hours a day to receive the necessary breathing support. Some people may only need breathing assistance while sleeping. It depends on the severity of the condition, along with the severity of the shortness of breath. Sometimes a surgical implant into the diaphragm can help with breathing problems. This implant causes electrical stimulation of the muscles to control breathing. To help treat your CCHS, you may need a whole team of specialists to manage it. The team may include a pulmonologist, cardiologist, otolaryngologist, gastroenterologist, neurologist, ophthalmologist, and a speech or language pathologist.


People with CCHS need to be careful when giving anesthesia. Their bodies have difficulty regulating breathing which can be harmful when placed under the bed, their bodies may not know how to breathe on their own. Swimming can also be difficult for people with CCHS, as the body may forget that it needs to breathe while in the water. Causing a long time without oxygen entering the body. Prompt treatment and management of CCHS does not alter lifespan. Children with CCHS can live an active lifestyle as long as they are supervised. The harmful effects of CCHS occur when it is left untreated for prolonged periods of time without oxygen, which can lead to many complications including neurological. CCHS can be managed for you to live a fulfilling life.

If left untreated CCHS can cause damage to the body and nerve functions due to reduced oxygen levels for a long time.

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HealthStatus Team

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