Akiba Y, Kimura T, Kitaoka T, Toyoshima E, Fujiuchi S, Osanai S, Nakano H, Ohsaki Y, Yahara O, Kikuchi K
First Department of Internal Medicine, Asahikawa Medical College, Japan.
Nihon Kyobu Shikkan Gakkai Zasshi. 1996 Aug;34(8):850-5.
Type-1 hereditary motor and sensory neuropathy (HMSN I) is a slowly progressive disease resulting in distal muscle weakness with atrophy, and in sensory disturbance. Restrictive lung disease and respiratory muscle failure, common in many advanced neuromuscular disorders, is not a predominant feature of HMSN-I. Recently, there have been several reports of respiratory dysfunction in patients with HMSN I, complicated by diaphragmatic weakness. In five patients with HMSN I (3 men and 2 women, mean age 55.4 yrs), we measured spirometric variables, maximal inspiratory pressure, and maximal expiratory pressure, in both sitting and supine positions. We also studied phrenic nerve conduction by cutaneous stimulation at the posterior border of the sternocleidomastoid muscle. Four of five patients had low maximal inspiratory pressure and abnormally long phrenic nerve latency. Two patients showed evidence of a restrictive lung disorder and daytime alveolar hypoventilation. All-night polysomnography in those two patients revealed periodic decreases in arterial blood oxygen saturation, and episodes of central apnea. We conclude that diaphragmatic dysfunction is not rare in HMSN I, and that maximal inspiratory pressure and phrenic nerve conduction may be useful in the early detection of phrenic nerve involvement.
1型遗传性运动和感觉神经病（HMSN I）是一种缓慢进展的疾病，会导致远端肌肉无力并伴有萎缩，以及感觉障碍。限制性肺病和呼吸肌衰竭在许多晚期神经肌肉疾病中很常见，但并非HMSN-I的主要特征。最近，有几篇关于HMSN I患者呼吸功能障碍并伴有膈肌无力的报道。在5例HMSN I患者（3名男性和2名女性，平均年龄55.4岁）中，我们测量了他们在坐位和仰卧位时的肺量计变量、最大吸气压力和最大呼气压力。我们还通过在胸锁乳突肌后缘进行皮肤刺激来研究膈神经传导。5例患者中有4例最大吸气压力较低，膈神经潜伏期异常延长。2例患者有限制性肺病和日间肺泡通气不足的证据。这2例患者的整夜多导睡眠图显示动脉血氧饱和度周期性下降，以及中枢性呼吸暂停发作。我们得出结论，膈肌功能障碍在HMSN I中并不罕见，最大吸气压力和膈神经传导可能有助于早期检测膈神经受累情况。
