{"title":"有一个歪歪扭扭的人,无论白天黑夜都不能呼吸","authors":"N. Jaimchariyatam, L. Aboussouan","doi":"10.1093/MED/9780190671099.003.0029","DOIUrl":null,"url":null,"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.","PeriodicalId":30275,"journal":{"name":"Sleep Disorders","volume":"25 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"There Was a Crooked Man Who Could Not Breathe Day or Night\",\"authors\":\"N. Jaimchariyatam, L. Aboussouan\",\"doi\":\"10.1093/MED/9780190671099.003.0029\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":30275,\"journal\":{\"name\":\"Sleep Disorders\",\"volume\":\"25 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sleep Disorders\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/MED/9780190671099.003.0029\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sleep Disorders","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/MED/9780190671099.003.0029","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
There Was a Crooked Man Who Could Not Breathe Day or Night
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.
期刊介绍:
Sleep Disorders is a peer-reviewed, Open Access journal that publishes original research articles, review articles, and clinical studies related to all aspects of sleep disorders.