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Browse » Domains » Rare Genetic Conditions » Disorders of Respiratory Control with Inherent Autonomic Dysregulation

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Measure: Disorders of Respiratory Control with Inherent Autonomic Dysregulation   #220800

Definition: The measure is used to assess dysregulation of the autonomic nervous system and whether the individual may have characteristic autonomic dysregulation as anticipated in congenital central hypoventilation syndrome (CCHS).

Purpose: Congenital central hypoventilation syndrome (CCHS) represents the extreme end of a spectrum of autonomic nervous system dysregulation, characterized by hypoventilation during sleep (and, in more severe cases, during wakefulness and sleep), with markedly diminished or absent ventilatory responses to hypoxia/hypercarbia, coupled with signs of autonomic dysfunction.


Keywords: Pulmonary, respiratory control, congenital central hypoventilation syndrome, CCHS, paired-like homeobox gene, PHOX2B gene, autonomic nervous system dysfunction, ANSD, pediatric, birth, autonomic dysregulation, breathing, genetic, Autonomic Nervous System Questionnaire, ANSQ

Measure Release Date: April 30, 2015

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