Rare diseases · Sign or symptom
Central sleep apnea
HP:0010536
What it means
Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.
Rare diseases that can present with this19
Common30–79%
9- Achondroplasia
- Congenital myasthenic syndrome
- Multiple system atrophy
- Multiple system atrophy, cerebellar type
- Multiple system atrophy, parkinsonian type
- Prader-Willi syndrome
- Presynaptic congenital myasthenic syndrome
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Sometimes5–29%
7- Arnold-Chiari malformation type I
- Chronic thromboembolic pulmonary hypertension
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Schaaf-Yang syndrome
- SIM1-related Prader-Willi-like syndrome
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Central sleep apnoea
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.