There Was a Crooked Man Who Could Not Breathe Day or Night

Abstract

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory polyneuropathy. Patients with CMT are prone to develop vocal cord palsy, diaphragmatic dysfunction, sleep disorders, and hypoventilation. Sleep disorders in CMT result mainly from comorbid sleep disordered breathing (SDB), including obstructive sleep apnea and sleep-related hypoventilation, and restless leg syndrome. Diaphragmatic dysfunction and pharyngeal neuropathy are the main pathogenetic mechanisms of SDB in patients with CMT. Similar to others, the diagnosis and treatment of SDB in patients with CMT are mainly based on polysomnography and nocturnal noninvasive ventilation, respectively.