New York Center for Voice and Swallowing Disorders, St. Luke's Roosevelt Medical Center, New York, New York, USA.
Laryngoscope. 2010 Feb;120(2):291-6. doi: 10.1002/lary.20685.
OBJECTIVES/HYPOTHESIS: To describe and define laryngeal neuropathy in Charcot-Marie-Tooth (CMT) disease.
STUDY DESIGN/METHODS: Retrospective record review from a university laryngology practice.
Four adult CMT patients presented with laryngeal symptoms. Three patients exhibited bilateral vocal fold palsy, in each case with more severe hypomobility on the left. One case exhibited an isolated left vocal fold palsy. All patients complained of hoarseness and stridor, three had dyspnea, two patients had dysphagia, and one had obstructive sleep apnea (OSA). One patient has required airway surgery to date. Genetic testing revealed known sequence alterations in one case and sequence alterations previously not associated with laryngeal dysfunction in two cases. One case was familial and two were sporadic; information is not available in a fourth.
The clinical course of the cases suggests slowly progressive neuropathy that appears to be nerve length dependent. The lack of severe respiratory distress despite dense bilateral paresis is consistent with existing reports and with the reported low rate of tracheostomy in adults with laryngeal manifestations of CMT. Genetic testing does not currently inform expectations or management of laryngeal disease. Dyspnea, dysphagia, and OSA symptoms in patients with CMT require careful laryngologic evaluation.
目的/假设：描述并定义 Charcot-Marie-Tooth（CMT）疾病中的喉神经病。
研究设计/方法：来自大学喉科实践的回顾性记录回顾。
四名成年 CMT 患者出现了喉部症状。三名患者表现为双侧声带麻痹，在每种情况下，左侧的活动度更差。一例表现为孤立的左侧声带麻痹。所有患者均主诉声音嘶哑和喘鸣，三人有呼吸困难，两名患者有吞咽困难，一名患者有阻塞性睡眠呼吸暂停（OSA）。一名患者迄今已接受气道手术。基因检测在一例中发现了已知的序列改变，在两例中发现了以前与喉功能障碍无关的序列改变。一例为家族性，两例为散发性；第四例信息不可用。
这些病例的临床病程表明，神经病变呈进行性缓慢进展，似乎与神经长度有关。尽管存在双侧严重麻痹，但严重呼吸窘迫的情况并不明显，这与现有的报告以及报告中成人出现喉 CMT 表现时气管切开术的低发生率一致。基因检测目前不能为喉疾病的预期或管理提供信息。CMT 患者的呼吸困难、吞咽困难和 OSA 症状需要仔细的喉镜评估。
