Dematteis M, Pépin J L, Jeanmart M, Deschaux C, Labarre-Vila A, Lévy P
Sleep and Physiologie Respiratoire Expérimentale Théorique et Appliquée Laboratory, University Hospital, Grenoble, France.
Lancet. 2001 Jan 27;357(9252):267-72. doi: 10.1016/S0140-6736(00)03614-X.
Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of hereditary motor and sensory polyneuropathies in which sleep apnoea has rarely been reported and no causal relation shown. We looked for an association between the most common subtype of CMT disease (CMT1A) and sleep apnoea syndrome.
Having diagnosed sleep apnoea and CMT in one family member (index case), we prospectively investigated 13 further members not previously suspected of having neuropathy or apnoeas. All had a neurological examination, electroneuromyography, polysomnography, and genetic testing for CMT disease.
11 of the 14 family members had the autosomal dominant demyelinating form of CMT disease with PMP22 gene duplication on chromosome 17. Whatever their neurological disability, all 11 individuals had sleep apnoea syndrome with a mean (SD) apnoea-hypopnoea index of 46.6/h (28.5) of sleep (normal value <15/h). The remaining three family members were free from neuropathy and sleep apnoea syndrome. Sleep apnoea and neuropathy severity were highly correlated; the compound muscle action potential (CMAP) amplitude of the median nerve was inversely correlated with the apnoea-hypopnoea index (r=-0.69, p=0.029). The severity of neuropathy and sleep apnoea were higher in male CMT individuals and were correlated with age and body mass index. No wake or sleep diaphragmatic dysfunction was shown.
We think that sleep apnoea syndrome is related to a pharyngeal neuropathy. Upper airway dysfunction, previously described in the CMT2C subtype, might be a clinical expression of the CMT1A subtype, to which familial susceptibility could predispose.
夏科-马里-图斯（CMT）病是一组遗传性运动和感觉性多神经病，具有遗传异质性，其中睡眠呼吸暂停鲜有报道，且未显示出因果关系。我们探究了CMT病最常见亚型（CMT1A）与睡眠呼吸暂停综合征之间的关联。
在一名家庭成员（索引病例）中诊断出睡眠呼吸暂停和CMT后，我们对另外13名之前未被怀疑患有神经病变或呼吸暂停的家庭成员进行了前瞻性研究。所有患者均接受了神经系统检查、神经电生理检查、多导睡眠图检查以及CMT病的基因检测。
14名家庭成员中有11名患有常染色体显性脱髓鞘型CMT病，其17号染色体上存在PMP22基因重复。无论其神经功能障碍程度如何，这11名个体均患有睡眠呼吸暂停综合征，睡眠期间平均（标准差）呼吸暂停低通气指数为46.6次/小时（28.5）（正常值<15次/小时）。其余三名家庭成员未患神经病变和睡眠呼吸暂停综合征。睡眠呼吸暂停与神经病变严重程度高度相关；正中神经的复合肌肉动作电位（CMAP）波幅与呼吸暂停低通气指数呈负相关（r = -0.69，p = 0.029）。男性CMT患者的神经病变和睡眠呼吸暂停严重程度更高，且与年龄和体重指数相关。未发现清醒或睡眠时的膈肌功能障碍。
我们认为睡眠呼吸暂停综合征与咽部神经病变有关。先前在CMT2C亚型中描述的上呼吸道功能障碍可能是CMT1A亚型的一种临床表现，家族易感性可能使其更易发生。
