Charcot-Marie-Tooth Disease with Diaphragmatic Weakness

Shinobu OSANAI, Yuji AKIBA, Hitoshi NAKANO, Hiroyuki MATSUMOTO, Osamu YAHARA, Sokichi ONODERA
1992 Internal medicine (Tokyo. 1992)  
A 61-year-old man, who suffered from Charcot-Marie-Tooth disease (CMT) for 44 years, was evaluated for the respiratory disorder. He had diaphragmatic dysfunction induced by phrenic nerve disturbance. In this patient, central type apnea and hypopnea related to dia phragmatic weakness occurred during REM sleep, which induced accessory inspiratory muscle inhibition. Respiratory muscle dysfunction had not been generally recognized in CMT until recently, but its significance should be emphasized.
doi:10.2169/internalmedicine.31.1267 fatcat:f5qh5l7o35ghhhrf564zppxuxq