Sagliocco Laura, Orlandi Giovanni, Calabrese Rosa, Pellegrinetti Alberto, Baglini Ornella, Castelli Francesca, Baldinotti Fulvia, Sartucci Ferdinando
Department of Neursciences, Institute of Neurology, Pisa University Medical School, Pisa, Italy.
Am J Phys Med Rehabil. 2003 Oct;82(10):754-9. doi: 10.1097/01.PHM.0000087453.94529.0D.
To determine whether neurophysiologic findings correlate to clinical respiratory signs or spirometric abnormalities in patients with hereditary motor and sensory neuropathy type 1 (Charcot-Marie-Tooth disease).
A total of 11 patients with hereditary motor and sensory neuropathy type 1A, genetically identified, (age range, 10-58 yr) were included and studied by physical pulmonary examination, chest radiography, respiratory function tests, and bilateral transcutaneous phrenic nerve conduction.
No patient complained of respiratory symptoms or revealed abnormal spirometric or maximal respiratory pressure data, despite a phrenic nerve conduction significantly slower (P < 0.0001; median conduction time, 18.6 msec; 95th percentile, 31.97 msec) than that recorded in the control group of healthy subjects (median, 6.05 msec; 95th percentile, 8.82 msec); the amplitudes of compound muscle action potentials were not statistically different from the controls.
Our study confirms a dramatic phrenic nerve involvement in absence of clinical and laboratory evidence of diaphragmatic weakness; further studies and an adequate follow-up are necessary to discover whether the disease progress might encompass respiratory dysfunction at later stages.
确定1型遗传性运动和感觉神经病（夏科-马里-图斯病）患者的神经生理学检查结果是否与临床呼吸体征或肺功能异常相关。
纳入11例经基因鉴定的1A型遗传性运动和感觉神经病患者（年龄范围10 - 58岁），通过肺部体格检查、胸部X线摄影、呼吸功能测试以及双侧经皮膈神经传导检查进行研究。
尽管膈神经传导速度明显慢于健康对照组（P < 0.0001；中位传导时间18.6毫秒；第95百分位数31.97毫秒，对照组中位值6.05毫秒；第95百分位数8.82毫秒），但无一例患者主诉呼吸症状，肺功能或最大呼吸压力数据也均无异常；复合肌肉动作电位的波幅与对照组相比无统计学差异。
我们的研究证实，在无膈肌无力的临床和实验室证据情况下，膈神经存在显著受累；需要进一步研究和充分随访，以发现疾病进展后期是否会出现呼吸功能障碍。
