"High clinical suspicion is important for this population of patients. Since muscular dystrophy is progressive in nature, monitoring disease progression in these patients is critical for timing ...

Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation, autonomic nervous system (ANS) dysregulation (ANSD), and mutations in the paired-like homeobox 2B ...

Sleep-related hypoventilation is a breathing-related disorder that interrupts normal sleep. This condition may be diagnosed when all other sleep disorders have been ruled out, though it may appear ...

The 1970 report of an infant with “failure of automatic control of ventilation” (30) was the first to describe the CCHS control of breathing deficit, including extraordinary details regarding the ...