Frequency: Between 200 and 300 cases exist around the world, but it’s estimated that one baby out of every 200,000 could have this disease. 

Description: The mechanisms of involuntary breathing do not work properly. In the most serious cases, this means a person cannot sleep without assisted ventilation. In more mild forms, patients can sleep through the night, but the lack of oxygen makes sleep difficult.   

Cause: The main cause is one or several mutations of PHOX2B gene with autosomal dominant inheritance.