Central hypoventilation syndrome means the brain does not send a strong enough “breathe” signal, especially during sleep. Because of this, a person breathes too shallowly or too slowly (hypoventilation). Oxygen can fall and carbon dioxide (CO₂) can build up in the blood, but the person may not feel the normal warning signs or may not wake up to breathe more. This problem is “central” because the main issue is in the breathing control centers and the autonomic nervous system, not mainly in the lungs themselves. CHS can be present from birth (congenital) or can happen later after damage or disease of the brainstem (acquired). MedlinePlus+2American Thoracic Society+2
Central hypoventilation syndrome (often “congenital central hypoventilation syndrome,” CCHS) is a rare condition where the brain’s automatic breathing control is weak, especially during sleep. The lungs and breathing tubes can be normal, but the body does not “notice” high carbon dioxide (CO₂) and low oxygen well, so breathing becomes too slow or too shallow. Because of this, many people need lifelong help from a breathing machine (ventilatory support) at night, and some need it both day and night. CHS can also affect the autonomic nervous system (automatic body functions), so heart rhythm, temperature control, gut movement, and other body systems may be involved. National Organization for Rare Disorders+3American Thoracic Society+3PMC+3
Other names
CHS is often discussed using related names. The best-known form is Congenital Central Hypoventilation Syndrome (CCHS), which is strongly linked to PHOX2B gene changes. Older or informal names you may see include “Ondine’s curse” and primary (or idiopathic) alveolar hypoventilation, especially when doctors are describing impaired automatic breathing control with no primary lung disease. MedlinePlus+2NCBI+2
Types
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Congenital Central Hypoventilation Syndrome (CCHS): starts at birth or early infancy in many people. Breathing is often much worse during sleep, and there can be signs of autonomic (“automatic body control”) problems. PHOX2B testing is central to confirming this diagnosis. MedlinePlus+2American Thoracic Society+2
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Later-onset CCHS (LO-CCHS): a PHOX2B-related form that can appear later in childhood or even adulthood, sometimes noticed after an illness, anesthesia, or another stress makes the low breathing drive more obvious. American Thoracic Society+2Springer+2
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Acquired Central Hypoventilation Syndrome (ACHS): begins after birth because the brainstem respiratory centers are injured or inflamed, such as from stroke, trauma, tumors, or encephalitis. The key idea is a “new” loss of automatic breathing control. PMC+2Frontiers+2
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Syndromic/secondary central hypoventilation: central hypoventilation can be part of broader conditions that affect the hypothalamus/autonomic system (for example ROHHAD) or some genetic syndromes with abnormal ventilatory responses. Springer+2PMC+2
Causes
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PHOX2B gene variant (most common cause of CCHS): PHOX2B helps early nervous system development. Many people with CCHS have a disease-causing PHOX2B change, which disrupts automatic control of breathing and other autonomic functions. MedlinePlus+2NCBI+2
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Polyalanine repeat expansion in PHOX2B: a frequent PHOX2B mutation type in CCHS. It is linked with the severity range—some people need support mainly in sleep, while others need it even when awake. NCBI+2American Thoracic Society+2
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Non-polyalanine PHOX2B variants: another PHOX2B mutation group that can be associated with more complex disease patterns and higher risk of related autonomic or neural-crest problems in some patients. NCBI+2American Thoracic Society+2
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Brainstem developmental problems (congenital): if the brainstem breathing centers do not form or connect normally, automatic breathing responses to CO₂/low oxygen can be weak, leading to central hypoventilation from early life. Springer+2American Thoracic Society+2
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Autonomic nervous system dysregulation (core feature in CCHS): in CCHS, the “automatic body control” system may not react normally to high CO₂ or low oxygen, so breathing does not increase as it should during sleep. MedlinePlus+2American Thoracic Society+2
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Hirschsprung disease association (neurocristopathy link): some people with CCHS also have Hirschsprung disease (severe constipation/blocked bowel due to missing nerve cells). This supports the idea of a broader neural-crest/autonomic development disorder. MedlinePlus+2American Thoracic Society+2
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Neural-crest tumors (association in some patients): some individuals with PHOX2B-related disease have higher risk of neural-crest tumors (such as neuroblastoma). This does not “cause” CHS, but it is part of the same disease pathway in some cases. American Thoracic Society+2Lurie Children’s+2
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Brainstem stroke (example: Wallenberg/lateral medullary infarct): a stroke that injures medulla/brainstem breathing centers can reduce the automatic drive to breathe, causing acquired central hypoventilation that is often most dangerous during sleep. PMC+2PMC+2
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Brainstem tumor (posterior fossa/medulla lesions): tumors can compress or damage the respiratory control centers, leading to acquired hypoventilation, especially noticed at night when voluntary breathing is not helping. Frontiers+2ScienceDirect+2
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Brainstem trauma (head/neck injury): trauma can injure pathways that control breathing rhythm and CO₂ response, causing new hypoventilation or central apneas, often worsening during sleep. PMC+2Frontiers+2
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Neurosurgery affecting the brainstem: surgery near the brainstem can sometimes disrupt breathing control networks, leading to postoperative or persistent central hypoventilation in rare cases. Wikipedia+2ScienceDirect+2
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Central nervous system infection (encephalitis/brainstem infection): inflammation or infection in the brainstem can disturb respiratory centers and cause acquired central hypoventilation. PMC+2Frontiers+2
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Autoimmune/inflammatory encephalitis affecting brainstem networks: some inflammatory brain diseases can involve areas that regulate breathing and autonomic function, leading to hypoventilation that may need close monitoring. Frontiers+2PMC+2
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Demyelinating disease (e.g., multiple sclerosis or related disorders): when nerve signaling in brainstem pathways is damaged, automatic breathing control can weaken and cause sleep-related hypoventilation in some cases. HKMJ+2Wikipedia+2
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Chiari malformation (hindbrain crowding): structural crowding near the brainstem can affect breathing control, and acquired central hypoventilation has been reported in association with brainstem/cranio-cervical problems. Frontiers+2HKMJ+2
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ROHHAD syndrome: this rare childhood condition involves hypothalamic dysfunction, autonomic dysregulation, and hypoventilation. The breathing problem is often recognized after rapid weight gain and other hormone/autonomic changes. PMC+2National Organization for Rare Disorders+2
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Prader–Willi syndrome (abnormal ventilatory responses + sleep breathing problems): many children with PWS have abnormal responses to low oxygen/high CO₂ and can develop sleep-disordered breathing including sleep-related hypoventilation, especially when obesity is present. PubMed+2JCSM+2
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Severe sedative or opioid effect (respiratory center depression): some medicines can strongly reduce the brain’s breathing drive. In people already vulnerable, this can worsen hypoventilation, particularly during sleep. AASM+2American Thoracic Society+2
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Congenital or acquired impairment of CO₂ sensing (blunted ventilatory response): CHS is closely tied to a weak breathing response when CO₂ rises. This “missing alarm” is a key mechanism described in congenital forms and helps explain why sleep is high risk. American Thoracic Society+2Dove Medical Press+2
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Mixed or unclear (“idiopathic”) central hypoventilation after other causes are excluded: sometimes doctors use a label like idiopathic central alveolar hypoventilation when lung, heart, neuromuscular disease, and clear brainstem lesions have been ruled out, but the central drive remains weak. American Thoracic Society+2atsjournals.org+2
Symptoms
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Shallow breathing during sleep: many people breathe “too little” mainly at night because voluntary control is off during sleep, and the automatic system does not react strongly to rising CO₂. MedlinePlus+2American Thoracic Society+2
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Low oxygen during sleep (nighttime hypoxemia): oxygen levels can drop during sleep because ventilation is not enough to bring in oxygen and remove CO₂. MedlinePlus+2Dove Medical Press+2
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High CO₂ (hypercapnia), often worse at night: CO₂ can build up because the lungs are not ventilated enough, and the brain may not increase breathing as a normal response. MedlinePlus+2AASM+2
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Bluish lips or skin (cyanosis): when oxygen is low, lips or fingertips may look blue or gray, especially during sleep or after missed ventilator support. MedlinePlus+2American Thoracic Society+2
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Morning headaches: high CO₂ overnight can trigger headaches in the morning because CO₂ affects blood vessels and brain chemistry. AASM+2Dove Medical Press+2
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Excess daytime sleepiness: poor breathing during sleep can fragment sleep quality and reduce oxygen delivery, leading to strong sleepiness during the day. Dove Medical Press+2American Thoracic Society+2
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Fatigue and low energy: chronic low oxygen or high CO₂ can make the body feel tired and weak, even if the person sleeps many hours. MedlinePlus+2AASM+2
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Poor concentration or school/work problems: long-term sleep hypoventilation can affect attention, learning, and memory because sleep quality and oxygen/CO₂ balance matter for brain function. American Thoracic Society+2Dove Medical Press+2
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Shortness of breath with mild activity (in some cases): if hypoventilation is severe or also occurs while awake, people may feel breathless with activity because gas exchange is not keeping up. American Thoracic Society+2atsjournals.org+2
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Repeated chest infections or pneumonia (especially in children): weak breathing during sleep and poor airway protective responses can contribute to infections, especially if ventilation support is not adequate. American Thoracic Society+2Dove Medical Press+2
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Slow or weak response to low oxygen/high CO₂ (few “warning” feelings): a classic feature is that the person may not feel “air hunger” even when CO₂ is high, which is why CHS can be dangerous without monitoring. MedlinePlus+2American Thoracic Society+2
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Autonomic symptoms (temperature, sweating, blood pressure changes): because CCHS involves autonomic dysregulation, people can have unusual temperature control, sweating patterns, or other automatic body control issues. American Thoracic Society+2Orpha+2
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Heart rhythm problems (in some patients): abnormal autonomic control can affect heart rate and rhythm; clinicians often watch for rhythm issues as part of the CCHS risk profile. American Thoracic Society+2Dove Medical Press+2
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Signs of pulmonary hypertension (late finding in untreated cases): long-term low oxygen can raise pressure in lung blood vessels, which can strain the heart; doctors screen because this can be a complication. American Thoracic Society+2AASM+2
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In infants: poor weight gain or feeding difficulty (possible): babies with early-onset CCHS may struggle because breathing is unsafe during sleep and sometimes during feeding, so growth and feeding can be affected. MedlinePlus+2American Thoracic Society+2
Diagnostic tests
Physical exam
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Breathing pattern observation (awake and asleep): the clinician watches for shallow breathing, slow breathing, or little “effort” change when oxygen drops—clues that the brain drive is low rather than the lungs being blocked. American Thoracic Society+2MedlinePlus+2
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Pulse oximetry in clinic (spot check): a finger sensor checks oxygen saturation. Low readings or big drops with sleepiness raise suspicion of sleep-related hypoventilation and guide urgent next steps. AASM+2American Thoracic Society+2
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Heart and lung exam for complications: doctors listen for signs that suggest long-term low oxygen effects (for example, strain on the heart or signs of pulmonary hypertension), which can occur if hypoventilation is not treated well. American Thoracic Society+2Dove Medical Press+2
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Autonomic feature screening: the clinician looks for pupil, sweating, temperature regulation, GI motility, and other autonomic signs, because CHS—especially CCHS—often includes autonomic dysregulation beyond breathing. American Thoracic Society+2Orpha+2
Manual / bedside functional tests
- Spirometry (basic lung function test): this checks airflow and lung volumes to help rule out primary lung disease as the main cause of high CO₂. CHS is usually considered after lung disease is excluded. American Thoracic Society+2PubMed+2
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Respiratory muscle strength testing (MIP/MEP or similar): measures how strong the breathing muscles are. This helps separate central drive problems from neuromuscular weakness that can also cause hypoventilation. American Thoracic Society+2Dove Medical Press+2
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Six-minute walk test with oxygen monitoring (when age-appropriate): walking while oxygen is monitored can show whether oxygen drops with activity and can help assess severity and functional impact, especially in older children/adults. AASM+2Dove Medical Press+2
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Ventilatory response testing (CO₂/O₂ response testing, specialized): in CHS, the breathing increase that normally happens when CO₂ rises (or oxygen falls) is blunted. Specialized centers can measure this to support the diagnosis. American Thoracic Society+2atsjournals.org+2
Lab and pathological tests
- Arterial blood gas (ABG): ABG directly measures oxygen and CO₂ in blood. High PaCO₂ supports hypoventilation and helps show how severe gas retention is. AASM+2AASM+2
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Serum bicarbonate (CO₂ on basic metabolic panel): if CO₂ is high for a long time, the kidneys often raise bicarbonate to compensate. A high bicarbonate level can be a clue of chronic hypoventilation. AASM+2e-jsm.org+2
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Transcutaneous CO₂ (TcPCO₂) monitoring (bloodless CO₂ trend): a skin sensor estimates CO₂ over time, often during sleep studies, and is recommended as a way to detect sleep hypoventilation. AASM+2AASM+2
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End-tidal CO₂ (EtCO₂) monitoring: this measures CO₂ in exhaled air and can track hypoventilation during sleep testing. Sleep medicine guidance recognizes EtCO₂ as a useful method for hypoventilation detection. AASM+2AASM+2
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PHOX2B genetic testing (key confirmatory test for CCHS): stepwise PHOX2B testing is strongly recommended to confirm CCHS and guide care because PHOX2B mutations are central to the disease definition. American Thoracic Society+2NCBI+2
Electrodiagnostic / sleep and physiologic recordings
- Polysomnography (overnight sleep study) with CO₂ monitoring: this is one of the most important tests. It can show sleep-related hypoventilation, central apneas, oxygen drops, and how CO₂ behaves across sleep stages. Dove Medical Press+2AASM+2
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Overnight oximetry trend (home or lab screening): continuous oxygen monitoring overnight can show repeated desaturations that raise concern, but it should not replace full sleep testing with CO₂ when CHS is suspected. AASM+2American Thoracic Society+2
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ECG or Holter monitoring (heart rhythm recording): because autonomic dysregulation and rhythm issues can occur in CCHS, clinicians may record heart rhythm over time to detect dangerous pauses or arrhythmias. American Thoracic Society+2American Thoracic Society+2
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Autonomic function testing (specialized physiologic tests): specialized testing can evaluate abnormal automatic control (heart rate variability, blood pressure responses, temperature regulation patterns), supporting the broader CHS/CCHS autonomic profile. American Thoracic Society+2Orpha+2
Imaging tests
- Brain MRI (especially brainstem): MRI helps look for acquired causes such as stroke, tumor, malformation, or inflammation affecting the medulla/brainstem breathing centers. This is very important when CHS begins later in life. PMC+2Frontiers+2
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Echocardiography (heart ultrasound): doctors screen for pulmonary hypertension and heart strain that can develop from chronic low oxygen, especially if hypoventilation has been present for a long time. American Thoracic Society+2AASM+2
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Chest imaging (X-ray or CT when needed): imaging can help exclude major lung disease or recurrent infection complications. Even though CHS is central, doctors still check lungs to avoid missing another cause of high CO₂. American Thoracic Society+2Dove Medical Press+2
Non-pharmacological treatments (therapies and other supports)
1) Lifelong ventilatory support plan (the “core treatment”). CHS is mainly treated by providing reliable breathing support, because the problem is the brain’s control of breathing, not weak lungs. A specialist team chooses the safest method for sleep and (if needed) daytime, and checks CO₂/oxygen targets over time. Purpose: prevent high CO₂ and low oxygen. Mechanism: mechanical support keeps air moving in and out when the brain does not drive breathing enough. PMC+2American Thoracic Society+2
2) Positive-pressure ventilation via tracheostomy (common in severe cases). A tracheostomy is a surgically created airway opening in the neck that connects to a ventilator. Purpose: very stable, reliable ventilation—often used in infants or severe CHS. Mechanism: the ventilator pushes air directly into the airway with controlled breaths, protecting the brain from repeated low oxygen/high CO₂ episodes. PMC+2障害者情報ネットワークノーマネット+2
3) Non-invasive ventilation (NIV) with mask (selected patients). Some people can use a nasal or face mask connected to a ventilator, mainly during sleep. Purpose: avoid a tracheostomy when safe. Mechanism: positive pressure through the mask supports breathing and helps maintain normal gas exchange; careful fitting and monitoring are important to ensure adequate ventilation. PMC+2American Thoracic Society+2
4) Diaphragm pacing (phrenic nerve stimulation) for mobility. Diaphragm pacing uses implanted electrodes to stimulate the phrenic nerves so the diaphragm contracts. Purpose: increase freedom and mobility for selected patients (not everyone is a candidate). Mechanism: electrical stimulation makes the diaphragm move in a breathing pattern, helping ventilation—often as part of a broader support plan. 障害者情報ネットワークノーマネット+2PMC+2
5) Home ventilator safety training for family/caregivers. CHS care depends on correct daily use of ventilators, tubing, alarms, backup power, and emergency steps. Purpose: reduce accidents and missed ventilation. Mechanism: training improves response to alarms, mask leaks, tube issues, and power failure, which directly reduces risk of low oxygen/high CO₂ events. American Thoracic Society+2PMC+2
6) Continuous monitoring during sleep (pulse oximetry + CO₂ monitoring). Many CHS plans include nighttime oxygen monitoring and CO₂ monitoring (end-tidal or transcutaneous). Purpose: detect hypoventilation early. Mechanism: alarms alert caregivers when oxygen drops or CO₂ rises, allowing quick correction (mask adjustment, ventilator check, suctioning, medical help). PMC+2American Thoracic Society+2
7) Regular sleep studies (polysomnography) to “tune” settings. Sleep studies measure breathing, oxygen, CO₂, and sleep stages. Purpose: confirm the ventilator is truly correcting hypoventilation across the whole night. Mechanism: objective testing guides changes in ventilator mode, pressures, backup rate, and interface, improving long-term safety. PMC+2American Thoracic Society+2
8) Avoidance of respiratory-depressant medicines and substances. Many sedatives, opioids, and some anesthetics can further reduce breathing drive. Purpose: prevent sudden dangerous hypoventilation. Mechanism: avoiding depressants reduces added suppression of the brain’s breathing control; any needed sedation/anesthesia should be planned by experienced teams. American Thoracic Society+2PMC+2
9) “High-risk anesthesia” plan and medical alert identification. People with CHS should have an anesthesia plan documented and carry emergency information. Purpose: prevent breathing failure during procedures. Mechanism: clinicians prepare monitored ventilation, CO₂ tracking, and safer medication choices, reducing peri-operative risk. American Thoracic Society+1
10) Cardiac rhythm screening (ECG/Holter) and follow-up. CHS can involve autonomic issues that affect heart rhythm in some patients. Purpose: detect silent rhythm problems early. Mechanism: monitoring identifies abnormal rhythms that may need treatment (sometimes devices), reducing fainting and sudden events. American Thoracic Society+2PMC+2
11) Pulmonary hypertension screening and oxygen/CO₂ control. Chronic low oxygen can strain lung blood vessels in some conditions; CHS care focuses on preventing hypoxemia and monitoring heart-lung status when indicated. Purpose: prevent long-term heart-lung complications. Mechanism: effective ventilation prevents repeated hypoxemia/hypercapnia and supports healthier cardiopulmonary physiology. PMC+2National Organization for Rare Disorders+2
12) Airway clearance plan (suctioning, humidification, chest physiotherapy if needed). Some patients—especially with tracheostomy—need secretion management. Purpose: keep airways open and reduce infections. Mechanism: humidification and clearance techniques reduce mucus plugging and improve ventilation efficiency. PMC+2障害者情報ネットワークノーマネット+2
13) Infection prevention behaviors (hand hygiene, sick-contact control). Respiratory infections can quickly destabilize breathing in CHS. Purpose: lower infection frequency and severity. Mechanism: fewer infections means fewer times ventilation needs increase and fewer emergency situations. National Organization for Rare Disorders+1
14) Vaccination plan (routine vaccines + clinician-recommended extras). Vaccines help reduce severe respiratory illness risk. Purpose: lower hospitalizations and breathing crises triggered by infections. Mechanism: immune priming reduces severe disease burden and protects lung function and ventilation stability. National Organization for Rare Disorders+1
15) Genetic testing, counseling, and family education. Many CHS/CCHS cases relate to PHOX2B variants, and genetics helps confirm diagnosis and guide family planning discussions. Purpose: accurate diagnosis and risk understanding. Mechanism: genetic confirmation supports targeted monitoring and coordinated long-term management. NCBI+2American Thoracic Society+2
16) School plan and sleep-safe routines (IEP/504 when needed). CHS can affect attendance, fatigue, and safety during sleep at school trips. Purpose: normal life with safe supports. Mechanism: structured plans ensure ventilation is used correctly, caregivers know warning signs, and emergencies are handled fast. American Thoracic Society+1
17) Physical activity guidance with monitoring. Exercise can be healthy, but some CHS patients need careful supervision, especially if autonomic symptoms exist. Purpose: fitness without unsafe breathing/heart strain. Mechanism: pacing, hydration, rest breaks, and medical guidance reduce risk while preserving strength and wellbeing. American Thoracic Society+1
18) Nutrition support and growth monitoring (especially in children). Some patients need help with feeding, growth, or swallowing/aspiration risk. Purpose: healthy growth and fewer lung complications. Mechanism: adequate nutrition supports immunity, muscle function, and recovery; safe feeding reduces aspiration-related breathing problems. 障害者情報ネットワークノーマネット+2PMC+2
19) Gut-motility and bowel-routine program (when autonomic gut issues exist). CHS can overlap with bowel motility problems (including Hirschsprung disease in some). Purpose: reduce constipation, pain, and emergencies. Mechanism: structured routines, hydration, fiber, and medical evaluation support safer gut function. American Thoracic Society+2NCBI+2
20) Regular specialist follow-up (multidisciplinary CHS clinic). CHS affects breathing and often other automatic body functions, so long-term coordinated care matters. Purpose: catch problems early and update equipment/settings. Mechanism: scheduled reviews, monitoring, and family coaching reduce complications and improve quality of life. PMC+2American Thoracic Society+2
Drug treatments
Important: There is no pill that replaces ventilatory support in CHS; medicines are usually for complications (reflux, asthma, infections, seizures, RSV prevention, immune conditions, etc.). Doses below are label-type examples and must be individualized by a licensed clinician. PMC+2American Thoracic Society+2
1) Furosemide (loop diuretic). Long description: used when fluid overload/heart strain exists (for example, certain heart-lung complications), to reduce swelling and breathing burden. Class: loop diuretic. Dosage/time: varies by age/condition; can be IV in acute settings or other forms per clinician. Purpose: reduce fluid load. Mechanism: increases salt/water excretion through kidneys. Side effects: dehydration, low electrolytes, low blood pressure. FDA Access Data
2) Spironolactone (aldosterone antagonist diuretic). Long description: may be used in selected heart-failure/edema situations to help manage fluid while protecting potassium (still needs monitoring). Class: potassium-sparing diuretic/aldosterone antagonist. Dosage/time: individualized. Purpose: reduce fluid and cardiac workload. Mechanism: blocks aldosterone effects in kidneys. Side effects: high potassium, hormonal effects (e.g., breast tenderness). FDA Access Data
3) Omeprazole (PPI for reflux). Long description: reflux can worsen cough, aspiration risk, and sleep comfort; treating reflux can support overall respiratory stability. Class: proton pump inhibitor. Dosage/time: once daily or clinician-directed. Purpose: reduce stomach acid and reflux injury. Mechanism: blocks stomach acid pump. Side effects: headache, diarrhea; long-term risks require clinician monitoring. FDA Access Data
4) Famotidine (H2-blocker for reflux). Long description: another acid-reducing option; sometimes used instead of or with other strategies depending on symptoms. Class: H2 receptor antagonist. Dosage/time: clinician-directed (often once or twice daily). Purpose: reduce acid and heartburn symptoms. Mechanism: blocks histamine-driven acid secretion. Side effects: headache, dizziness, rare rhythm issues in severe illness. FDA Access Data
5) Ondansetron (anti-nausea). Long description: vomiting can increase aspiration risk and disrupt ventilation routines; controlling nausea may protect airway safety during illness. Class: 5-HT3 antagonist antiemetic. Dosage/time: depends on age/indication. Purpose: prevent/treat nausea and vomiting. Mechanism: blocks serotonin signaling that triggers vomiting. Side effects: constipation, headache; QT-related rhythm risk in some patients. FDA Access Data
6) Albuterol (rescue bronchodilator). Long description: if a CHS patient also has asthma/bronchospasm, opening the airways can reduce work of breathing while ventilatory support manages CO₂. Class: short-acting beta-agonist (SABA). Dosage/time: as prescribed for wheeze/bronchospasm. Purpose: quick airway opening. Mechanism: relaxes airway smooth muscle. Side effects: tremor, fast heart rate, jitteriness. FDA Access Data
7) Budesonide inhalation (controller steroid for asthma). Long description: reduces airway inflammation over time in people who also have asthma, helping fewer flare-ups that can destabilize breathing at night. Class: inhaled corticosteroid. Dosage/time: daily schedule per clinician. Purpose: long-term control of airway inflammation. Mechanism: decreases inflammatory signaling in airways. Side effects: thrush/hoarseness; mouth rinse helps. FDA Access Data
8) Fluticasone nasal spray (allergic rhinitis control). Long description: nasal blockage can worsen sleep and mask ventilation comfort; treating allergies can improve airflow and sleep quality. Class: intranasal corticosteroid. Dosage/time: usually daily in season or as directed. Purpose: reduce nasal inflammation. Mechanism: local anti-inflammatory effect in nasal lining. Side effects: nosebleeds, irritation. FDA Access Data
9) Amoxicillin (antibiotic for susceptible bacterial infections). Long description: respiratory infections can trigger dangerous hypoventilation episodes; bacterial infections may require antibiotics when confirmed/strongly suspected. Class: penicillin antibiotic. Dosage/time: depends on infection type and age/weight. Purpose: treat bacterial infection. Mechanism: blocks bacterial cell-wall building. Side effects: allergy/rash, diarrhea. FDA Access Data
10) Azithromycin (antibiotic). Long description: used for certain bacterial respiratory infections when appropriate; can help shorten illness and reduce complications when correctly indicated. Class: macrolide antibiotic. Dosage/time: clinician-directed course. Purpose: treat specific bacterial infections. Mechanism: blocks bacterial protein production. Side effects: stomach upset; QT-related rhythm concerns in some patients. FDA Access Data
11) Oseltamivir (influenza antiviral). Long description: influenza can severely disturb sleep breathing and increase hospital risk; early antiviral treatment may reduce severity/duration in eligible patients. Class: neuraminidase inhibitor antiviral. Dosage/time: time-sensitive (often within ~48 hours of symptoms, per clinician judgment). Purpose: treat or prevent influenza in some situations. Mechanism: blocks influenza virus release/spread. Side effects: nausea, vomiting; rare neuropsychiatric events reported. FDA Access Data
12) Levetiracetam (anti-seizure medicine, when needed). Long description: seizures are not “the main” CHS feature, but some patients may have seizures from other causes; seizure control protects brain health and safety during sleep. Class: antiepileptic. Dosage/time: individualized. Purpose: prevent seizures. Mechanism: modulates synaptic signaling (exact mechanism not fully defined). Side effects: sleepiness, mood/behavior changes in some. FDA Access Data
13) Acetazolamide (carbonic anhydrase inhibitor; selected breathing-control uses). Long description: sometimes used in certain sleep-related breathing disorders to shift acid-base balance and stimulate breathing drive, but it does not replace ventilation in CHS and must be specialist-guided. Class: carbonic anhydrase inhibitor. Dosage/time: individualized. Purpose: support ventilation in select contexts. Mechanism: mild metabolic acidosis can increase respiratory drive. Side effects: tingling, kidney stones, electrolyte changes. FDA Access Data
14) Palivizumab (RSV prevention monoclonal antibody; infants/high-risk children). Long description: RSV can cause severe lower-respiratory disease in high-risk infants/children; prevention can reduce severe infection burden that destabilizes breathing support. Class: monoclonal antibody. Dosage/time: seasonal schedule per clinician guidance. Purpose: prevent severe RSV disease in high-risk children. Mechanism: binds RSV fusion protein to reduce viral activity. Side effects: injection reactions, fever; rare allergy. FDA Access Data
15) Nirsevimab (RSV prevention monoclonal antibody; infants/young children). Long description: a longer-acting antibody option to help protect against RSV during the season, which can be important for medically fragile infants. Class: monoclonal antibody. Dosage/time: per age/weight product guidance. Purpose: RSV lower-respiratory disease prevention. Mechanism: targets RSV to prevent infection from becoming severe. Side effects: rash, injection reactions; rare hypersensitivity.
16) Omalizumab (for allergic asthma/urticaria in eligible patients). Long description: not a CHS drug, but if a CHS patient has severe allergic asthma, better asthma control can reduce nighttime breathing stress and hospitalizations. Class: anti-IgE monoclonal antibody. Dosage/time: based on IgE/weight; scheduled injections. Purpose: reduce allergic inflammation and asthma flares. Mechanism: binds IgE to reduce allergic pathway activation. Side effects: injection reactions; rare anaphylaxis risk.
17) Dupilumab (for asthma/atopic disease in eligible patients). Long description: also not a CHS cure, but can help severe type-2 asthma or related inflammatory disease, supporting steadier breathing overall. Class: IL-4 receptor alpha antagonist monoclonal antibody. Dosage/time: scheduled injections per label/clinician. Purpose: reduce airway inflammation and flares. Mechanism: blocks IL-4/IL-13 signaling pathways. Side effects: eye irritation, injection reactions; eosinophilia in some.
18) Mepolizumab (for eosinophilic asthma/other labeled uses). Long description: if a CHS patient has eosinophilic asthma, reducing eosinophilic inflammation can reduce exacerbations that complicate ventilation routines. Class: anti-IL-5 monoclonal antibody. Dosage/time: scheduled injections. Purpose: reduce eosinophil-driven inflammation. Mechanism: blocks IL-5 signaling to reduce eosinophils. Side effects: headache, injection reactions; hypersensitivity risk.
19) Pegfilgrastim (G-CSF; immune support in special situations). Long description: not used for CHS itself; used to reduce infection risk in people with certain chemotherapy-related neutropenia. It is included here only as an example of “immune support” medicine that might appear in complex patients with other conditions. Class: colony-stimulating factor. Dosage/time: clinician-directed (often once per chemo cycle in labeled use). Purpose: raise neutrophils. Mechanism: stimulates bone marrow to produce neutrophils. Side effects: bone pain, spleen risks (rare).
20) Filgrastim (G-CSF; immune support in special situations). Long description: similar to pegfilgrastim—not a CHS treatment, but may be used if a patient has severe neutropenia from another cause, to reduce infection risk that can worsen respiratory stability. Class: colony-stimulating factor. Dosage/time: individualized. Purpose: increase neutrophil counts. Mechanism: stimulates neutrophil production and function. Side effects: bone pain; rare serious reactions.
Dietary molecular supplements (supportive only; not a cure)
No supplement has been proven to “treat” CHS the way ventilatory support does. Supplements are mainly considered only if a clinician finds a deficiency or a special need (for example, poor intake, limited sunlight, anemia risk). The safest approach is “food first,” and supplements only when medically appropriate.
1) Vitamin D (if low). Long description: may support bone strength, which matters if someone has limited outdoor activity or long-term health issues. Dosage: follow clinician advice and age-appropriate guidance (avoid high self-dosing). Function: supports calcium balance and bone health. Mechanism: helps regulate calcium absorption and bone remodeling.
2) Omega-3 fats (if diet is low). Long description: may support general cardiovascular health; CHS care often pays attention to heart rhythm and overall autonomic stability. Dosage: use food sources (fish, flax) first; supplement only if advised. Function: supports heart and inflammation balance. Mechanism: provides fatty acids used in cell membranes and signaling.
3) Iron (only if deficiency confirmed). Long description: iron deficiency can worsen fatigue and reduce exercise tolerance; correcting deficiency can improve energy and recovery from illness. Dosage: iron should be clinician-guided because excess iron can be harmful. Function: supports hemoglobin and oxygen transport. Mechanism: helps red blood cells carry oxygen through the body.
4) Vitamin B12 (if low or at risk). Long description: supports healthy nerves and blood cells; deficiency can cause weakness and neurologic symptoms that complicate overall health. Dosage: clinician-guided based on labs and diet pattern. Function: supports nerve function and blood formation. Mechanism: needed for DNA synthesis and myelin maintenance.
5) Magnesium (if low). Long description: magnesium supports muscle and nerve function; some people with limited diets or gut issues may be low. Dosage: follow clinician guidance (too much can cause diarrhea or low blood pressure). Function: supports muscle/nerve signaling. Mechanism: cofactor for many enzymes and neuromuscular signaling pathways.
6) Zinc (short courses if deficiency risk). Long description: zinc supports immune function and wound healing; during frequent infections, clinicians sometimes check nutrition status. Dosage: avoid long high-dose use without medical advice. Function: supports immune signaling. Mechanism: supports enzyme systems and immune cell function.
7) Selenium (if low). Long description: selenium supports antioxidant systems; deficiency is uncommon but possible with restricted diets. Dosage: clinician-guided to avoid excess. Function: antioxidant support. Mechanism: part of selenoproteins that reduce oxidative stress.
8) Probiotics (for selected gut issues). Long description: some CHS patients have gut motility problems; probiotics are sometimes tried for digestive comfort, though results vary. Dosage: product-specific; choose reputable products if used. Function: supports gut microbiome balance. Mechanism: may influence gut barrier and immune signaling in the gut.
9) Multivitamin/mineral (when intake is poor). Long description: a basic multivitamin can be considered when diet quality is low or appetite is poor, but it should not replace real food. Dosage: age-appropriate label dose. Function: fills small gaps. Mechanism: provides micronutrients needed for normal metabolism.
10) Oral rehydration/electrolyte support (during illness). Long description: vomiting/diarrhea can worsen weakness and destabilize sleep; hydration planning is simple but important. Dosage: clinician guidance for children; avoid excess sugar drinks. Function: maintain fluid/electrolyte balance. Mechanism: restores water and salts needed for normal muscle/nerve function.
Immunity/advanced biologic/regenerative drugs
There are no proven stem-cell “regenerative drugs” that cure CHS today; the proven lifesaving treatment remains ventilatory support with careful monitoring. The medicines below are advanced immune/biologic options that may be used only if a person with CHS also has a specific qualifying condition (like high RSV risk or severe asthma).
1) Palivizumab (RSV prevention). Long description: monthly seasonal antibody for high-risk infants/children to prevent severe RSV disease that can destabilize breathing. Dosage: clinician-scheduled injections. Function: infection prevention support. Mechanism: binds RSV fusion protein to block viral spread.
2) Nirsevimab (RSV prevention). Long description: longer-acting RSV antibody option used as seasonal protection in infants/young children. Dosage: per age/weight product guidance. Function: reduce severe RSV lower-respiratory disease risk. Mechanism: targets RSV to prevent severe infection outcomes.
3) Omalizumab (anti-IgE, severe allergic asthma/urticaria). Long description: helps some patients with severe allergic asthma have fewer attacks; fewer attacks can mean fewer nights with breathing stress. Dosage: based on labs/weight; scheduled injections. Function: immune pathway control. Mechanism: binds IgE to reduce allergic cascade.
4) Dupilumab (IL-4/IL-13 pathway blocker). Long description: for certain asthma/atopic disease phenotypes; better inflammatory control can support stable sleep breathing routines. Dosage: scheduled injections. Function: reduce type-2 inflammation. Mechanism: blocks IL-4/IL-13 signaling.
5) Mepolizumab (anti-IL-5). Long description: for eosinophilic asthma and other labeled uses; can reduce exacerbations that complicate respiratory care. Dosage: scheduled injections. Function: reduce eosinophil-driven inflammation. Mechanism: blocks IL-5 activity, lowering eosinophils.
6) Pegfilgrastim or filgrastim (G-CSF; special immune support). Long description: used for neutropenia (often chemo-related), not CHS itself; included to show what “immune boosting” looks like in real FDA-labeled medicine, not unproven stem-cell claims. Dosage: clinician-directed. Function: raise neutrophils. Mechanism: stimulates bone marrow production of neutrophils.
Surgeries (procedures and why they are done)
1) Tracheostomy. Why: creates a stable airway for ventilator connection, especially in infants or severe CHS needing reliable ventilation.
2) Diaphragm pacing system implantation. Why: selected patients may benefit from implanted phrenic nerve/diaphragm pacing to improve mobility and daytime function in specific scenarios.
3) Gastrostomy tube (G-tube) placement (when needed). Why: supports safe nutrition/hydration if oral feeding is unsafe or insufficient, helping growth and reducing aspiration risk.
4) Pacemaker implantation (only if clinically indicated). Why: some patients may develop clinically important rhythm problems related to autonomic dysfunction; a pacemaker may be recommended by cardiology in select cases.
5) Hirschsprung disease surgery (pull-through/colorectal procedures; only if present). Why: some CHS/CCHS patients have bowel nerve problems (Hirschsprung), and surgery removes the non-working bowel segment to restore stool passage.
Preventions
1) Use ventilatory support exactly as prescribed every sleep. This prevents the main danger: silent nighttime hypoventilation with high CO₂/low oxygen.
2) Avoid alcohol, opioids, and sedatives unless a specialist team approves and monitors. These can suppress breathing drive further.
3) Keep backup power and backup ventilation supplies ready (battery, manual plan). Power failure planning prevents sudden loss of ventilatory support.
4) Use CO₂ and oxygen monitoring alarms during sleep when recommended. Early warning prevents prolonged hypoventilation.
5) Get regular sleep studies to confirm settings still match body needs. Growth, weight change, and illness can change ventilation needs.
6) Infection prevention habits (hand hygiene, mask in outbreaks, reduce sick exposure). Infections can destabilize breathing quickly.
7) Vaccinations on schedule (plus clinician-recommended extras). This reduces severe respiratory infections that threaten stability.
8) Have an anesthesia plan on file before any procedure. Procedures can be risky without a CHS-aware team and monitoring.
9) Heart rhythm surveillance when advised (ECG/Holter). Detecting rhythm issues early reduces fainting and emergency risk.
10) Wear medical ID and keep an emergency one-page care plan. This helps emergency teams deliver safe ventilation and avoid harmful medications.
When to see a doctor (urgent warning signs)
Seek urgent medical care if there is increasing sleepiness/confusion, bluish lips/skin, repeated morning headaches, vomiting with breathing trouble, worsening shortness of breath, frequent ventilator alarms you cannot fix, fainting, or new seizures—because these can signal dangerous high CO₂/low oxygen or a serious infection. If a child with CHS has a fever and breathing seems worse than usual, contact the care team early because illnesses can destabilize ventilation needs.
What to eat and “what to avoid
1) Eat: regular balanced meals with protein (eggs, fish, lentils). Avoid: skipping meals (worsens weakness during illness). Stable nutrition supports resilience during respiratory infections.
2) Eat: fruits/vegetables daily. Avoid: ultra-processed snacks as the main diet. Better baseline nutrition supports recovery and overall health in a lifelong condition.
3) Eat: enough fluids (water; oral rehydration during diarrhea). Avoid: dehydration, especially during fever. Hydration helps mucus clearance and tolerance of ventilation routines.
4) Eat: fiber foods (vegetables, oats) if constipation is an issue. Avoid: very low-fiber patterns that worsen bowel problems. Autonomic gut issues may need structured diet support.
5) Eat: smaller meals if reflux is common. Avoid: heavy late-night meals that worsen reflux during sleep. Reflux control can support safer sleep and reduce aspiration risk.
6) Eat: calcium-rich foods (milk, yogurt) if tolerated. Avoid: ignoring low intake when growth/bone health is a concern; clinicians may check nutrition in long-term care.
7) Eat: iron-rich foods if anemia risk exists (meat, beans, leafy greens). Avoid: taking iron pills without testing—excess can be harmful. Use clinician-guided labs when needed.
8) Eat: healthy fats (nuts, fish) for general heart health. Avoid: energy drinks/very high caffeine. CHS care often includes attention to autonomic and cardiac factors in some patients.
9) Eat: soft/easy-to-swallow foods if swallowing safety is an issue (clinician-guided). Avoid: foods that increase choking/aspiration risk when advised by the care team.
10) Eat: consistent “sick-day” plan foods (soups, oral rehydration) during infections. Avoid: delaying medical contact when eating/drinking drops and breathing worsens. Illness planning is part of CHS safety.
FAQs
1) Is CHS the same as lung disease? No. The lungs may be normal, but the brain’s automatic breathing control is weak, especially during sleep.
2) Why is sleep the biggest danger time? Because breathing becomes more automatic in sleep, and CHS affects automatic control; CO₂ can rise silently without support.
3) Can CHS be cured with medicine? There is no proven medicine cure; the cornerstone is lifelong ventilatory support and monitoring.
4) Do all patients need a tracheostomy? No. Some can use non-invasive ventilation or pacing, but severe cases (often infants) may need tracheostomy for reliable ventilation.
5) What is diaphragm pacing? It is an implanted system that stimulates the phrenic nerves so the diaphragm moves to create breaths in selected patients.
6) Why do doctors monitor CO₂, not only oxygen? Oxygen can look “okay” while CO₂ quietly rises; CHS is mainly a hypoventilation/CO₂ problem.
7) Can a person with CHS play sports? Often yes, with individualized guidance and safety planning—especially if autonomic or cardiac issues exist.
8) Why is anesthesia risky in CHS? Some anesthetics and sedatives reduce breathing drive; CHS patients need careful planning, monitoring, and ventilatory support during procedures.
9) Is CHS genetic? Many cases of CCHS are linked to PHOX2B variants; genetics helps confirm diagnosis and guide care planning.
10) What infections are especially concerning? Any significant respiratory infection can destabilize breathing and increase ventilation needs; RSV and influenza are examples that clinicians try to prevent or treat early when appropriate.
11) Does CHS affect the heart? It can in some patients through autonomic dysfunction, so clinicians may screen for rhythm problems and manage them if found.
12) Why are regular sleep studies needed? Settings that worked before may not work after growth, weight change, or illness; sleep studies verify real-world ventilation and CO₂ control.
13) Can oxygen therapy alone treat CHS? Oxygen may improve oxygen numbers but does not fix hypoventilation and high CO₂; ventilatory support is the key therapy.
14) Are “stem cell cures” real for CHS? No proven stem-cell cure exists today; be cautious of clinics making big promises without strong evidence.
15) What is the most important daily habit for safety? Using prescribed ventilatory support every sleep, plus monitoring and backup planning, is the strongest protection.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: December 17, 2025.
