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Ondine’s Curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar hypoventilation, is a respiratory disorder that is fatal if untreated. Persons afflicted with Ondine’s curse classically suffer from respiratory arrest during sleep.
Persons who have CCHS get it at birth, or develop it due to severe neurological trauma/damage to the brainstem. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. (Chin, 2006).[1]
This very rare and serious form of central sleep apnea involves an inborn failure of autonomic control of breathing. About 1 in 200,000 live born children have the condition. In 2006, there were only about 200 known cases worldwide. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.
A person’s gender or race is not a determining factor when dealing with susceptibility to CCHS. Males and females are both affected equally and a person’s ethnicity, as of this point, has been not been coincided a variable to the disease.[2]
Ondine’s curse is associated with respiratory arrests during sleep and, with incomplete penetrance, neuroblastoma (tumors of the sympathetic ganglia), Hirschsprung disease (partial agenesis of the enteric nervous system), dysphagia (difficulty swallowing), anomalies of the pupilla, etc.
Ondine’s curse is exhibited typically as a congenital disorder, but in rare circumstances, can also result from severe brain or spinal trauma (such as after an automobile accident, stroke, or as a complication of neurosurgery).
Medical investigation of patients with this syndrome has led to a deeper understanding of how the body and brain regulate breathing on a molecular level. PHOX2B can be associated with this condition.[3][4][5][6] This homeobox gene is important for the normal development of the autonomic nervous system.
The disease used to be classified as a “neurocristopathy”,[7][8] or disease of the neural crest because part of the autonomic nervous system (such as sympathetic ganglia) derives from the neural crest. However, this denomination should be dropped because essential neurons of the autonomic nervous system, including those that underlie the defining symptom of the disease (respiratory arrests), are derived from the neural tube (the medulla), not from the neural crest.
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