tag:blogger.com,1999:blog-8005913307053669259.post2101595510948552340..comments2024-03-10T03:33:29.698-04:00Comments on Medicowesome: Ondine's curseIkaN (Nakeya Dewaswala, M.D.)http://www.blogger.com/profile/03461017124502223040noreply@blogger.comBlogger2125tag:blogger.com,1999:blog-8005913307053669259.post-25885945985980799632013-08-12T11:16:17.436-04:002013-08-12T11:16:17.436-04:00Thank you for sharing this information with us :)Thank you for sharing this information with us :)IkaN (Nakeya Dewaswala, M.D.)https://www.blogger.com/profile/03461017124502223040noreply@blogger.comtag:blogger.com,1999:blog-8005913307053669259.post-71697940623116149592012-11-08T21:26:31.609-05:002012-11-08T21:26:31.609-05:00My daughter has Ondine's curse it can have a g...My daughter has Ondine's curse it can have a gentic componate <br /><br /><br /> PHOX2B it provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, many tissues in the face and skull, and other tissue and cell types. <br /><br />The PHOX2B mutation associated with Ondine's Curse adds extra alanines to the polyalanine tracts in the PHOX2B protein, which is called a polyalanine repeat expansion. If someone has the PHOX2B mutation his or her Ondine's Curse diagnosis is clear. Unfortunately, absence of the mutation does not necessarily rule out Ondine's Curse . If a patient's symptoms look like and act like Ondine's Curse , the diagnosis can be made even though the PHOX2B gene tests normal.<br /><br />You can read more at http://confessionsofasleepdeprivedmomma.blogspot.com/Anonymoushttps://www.blogger.com/profile/17490404152598071508noreply@blogger.com