Diagnosis of Congenital Central Hypoventilation Syndrome(CCHS)

Congenital Central

Diagnosis of Congenital Central Hypoventilation Syndrome(CCHS)

Diagnosis of Congenital Central Hypoventilation Syndrome
Along with early recognition of the clinical features of CCHS, the gold standard test to diagnose CCHS is genetic testing to identify mutations in the PHOX2B gene, including PARMs, NPARMs, or deletions and duplications.

PHOX2B gene testing is appropriate for:
__Suspected CCHS patient (proband) for a differential diagnosis

__Parents of proband

__Sibs of the proband should be tested based on the genetic status of proband’s parents.

If the parent of the proband is affected (a 20/24 or 20/25 genotype), the risk to the sibs is 50%

If the parent of the sibs has somatic mosaicism for Phox2b, the risk to the sibs is 50% or lower

Adjuvant Treatment

Symptoms Related

Diseases, Symptoms, tcm, [tcmwindow.com]

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