Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine's Curse, is a rare genetic disorder that affects the autonomic control of breathing. Individuals with CCHS have difficulty sensing low levels of oxygen and high levels of carbon dioxide in their blood, leading to inadequate or absent automatic breathing responses.
This condition is typically present from birth and is caused by mutations in the PHOX2B gene. The severity of CCHS can vary, with some individuals experiencing mild symptoms while others may require ventilatory support during sleep or even throughout the day.
One of the key features of CCHS is the inability to breathe properly during sleep, which can result in shallow or irregular breathing patterns. This can lead to sleep disturbances, daytime fatigue, and other respiratory complications.
While CCHS is a lifelong condition, early diagnosis and appropriate management can significantly improve the quality of life for affected individuals. Treatment options may include mechanical ventilation during sleep, medications to stimulate breathing, and regular monitoring of blood gases.
It is important for individuals with CCHS to receive ongoing medical care and support to manage their respiratory function and address any associated complications. Genetic counseling is also recommended for families affected by CCHS to understand the inheritance pattern and potential risks for future generations.