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ATS issues statement on disorder of respiratory and autonomic nervous system regulation
Date:3/12/2010

The American Thoracic Society has released a new official clinical policy statement on congenital central hypoventilation syndrome (CCHS), a disorder of respiratory and autonomic nervous system (ANS) regulation. The ANS regulates reflexive acts, including heart rate and blood pressure, digestion, body temperature and pain perception.

The statement appears in the March 15, 2010 issue of the American Journal of Respiratory and Critical Care Medicine.

In light of a crucial discovery linking CCHS to mutations in a single gene, the new guidelines represent a complete overhaul of the guidelines the ATS last published in 1999. In 2003, a gene called PHOX2B was found to be the disease-defining gene for CCHS. The specific manner in which the PHOX2B gene mutates predicts the severity and form of the disease, making it a rich source of diagnostic and prognostic information.

"This discovery confirmed what we had long believed to be true: first, that CCHS is a genetic disorder; second, that the gene responsible for CCHS has a key role in the early embryology of the ANS; third, that inheritance of CCHS and the PHOX2B mutation is autosomal dominant; fourth, that the nature of the PHOX2B mutations can explain the spectrum of the CCHS phenotype; and so much more," explained Debra E. Weese-Mayer, M.D., professor of pediatrics at Northwestern University Feinberg School of Medicine, who chaired the committee that wrote the guidelines. "The discovery that PHOX2B is the gene that defines CCHS offers endless opportunities in terms of basic science inquiry and clinical care all with the long-term goal to improve quality of life for these patients."

By late 2009, collective publications from laboratories in the United States, France, Italy, Japan, Germany, Taiwan, China, the Netherlands and the United Kingdom have identified nearly 1,000 cases of PHOX2B mutation-confirmed CCHS.

The first sign of CCHS often appears just after birth, w
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Contact: Keely Savoie
ksavoie@thoracic.org
212-315-8620
American Thoracic Society
Source:Eurekalert

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