| Ondine's Curse |
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Information AboutOndine's Curse |
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This disorder is associated with a malfunction of the Nerve s that control involuntary body functions ( Autonomic Nervous System ) and abnormal development of early embryonic cells that form the Spinal Cord ( Neural Crest ). The abnormal neural crest development can lead to other abnormalities such as absent or impaired bowel function ( Hirschsprung's Disease ). Most affected individuals have an abnormality in ''PHOX2B'' or other Gene s. Most people with congenital Ondine's curse do not survive infancy, though they can be kept alive with a Ventilator . It was first described in 1962 by Severinghaus and Mitchell in three patients following surgery to the upper cervical Spinal Cord and Brainstem . REFERENCES
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