[Clinical report of hereditary motor and sensory neuropathy with proximal dominance in Shiga prefecture].
[Clinical report of hereditary motor and sensory neuropathy with proximal dominance in Shiga prefecture].
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滋贺县近端优势遗传性运动感觉神经病的临床报告
DOI：
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发表时间：
2007
期刊：
影响因子：
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通讯作者：
K. Nishimoto
中科院分区：
文献类型：
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作者：
Mitsuo Takahashi;Y. Mitsui;S. Yorifuji;Y. Nakamura;Y. Tsukamoto;K. Nishimoto
从1984年到2007年，我们在滋贺随访了8名遗传性运动和感觉神经病患者近端优势（HMSN-P）。两个家系中有4男4女表现为常染色体和显性遗传。这些家庭是姻亲关系。平均发病年龄为53.4 ± 8.9（40-68）岁。最初的症状是站立困难，抬起手臂困难，跛行或麻木。主要特征为近端优势的神经源性肌萎缩。所有深腱反射均减少或不存在。6例患者出现手足感觉异常和/或腿部振动感下降。高CK血液水平被确认在3例患者。4例肌电图呈神经源性改变。对2例患者进行了神经传导检查。正中神经、胫后神经MCV、正中神经、腓肠神经SCV均在正常范围内。8条神经中有5条感觉动作电位或M波振幅降低或消失，4条神经中有3条M波远端潜伏期延长。这些数据表明周围神经纤维的远端部分的功能障碍和神经干的轴突变性。7例患者死亡，平均死亡年龄为69.1 ± 8.2（52-77）岁。平均发病时间16.6（4-30）年。他们的临床病史类似于冲绳型HMSN-P，但没有疼痛的肌肉痉挛，这是独特的冲绳型体征。
We followed eight hereditary motor and sensory neuropathy patients with proximal dominance (HMSN-P) in Shiga prefecture from 1984 to 2007. There were 4 men and 4 women from two families showing autosomal and dominant prepotency. These families were related by marriage. The average onset of disease was at 53.4 +/- 8.9 (40-68) years-old. Initial symptoms were difficulty of standing up, difficulty elevating their arms, limping, or numbness. The main feature was neurogenic muscular atrophy with proximal dominance. All deep tendon reflexes were decreased or nonexistent. Paresthesia in the hands and feet and/or decreased vibratory sense in the legs were found in six patients. High CK blood levels were recognized in three patients. EMG in four patients revealed neurogenic pattern. Nerve conduction study was conducted in two patients. MCV of the median nerve and of the tibial posterior nerve, also SCV of the median nerve and of the sural nerve were within normal range in all nerves. Amplitudes of sensory action potential or of M wave were decreased or nonexistent in five of eight nerves, and distal latency of M waves was delayed in three of four nerves. These data suggests dysfunction of distal parts of the peripheral nerve fibers and axonal degeneration of the nerve trunk. Seven patients have died, and their average death age was 69.1 +/- 8.2 (52-77) years-old. Their average affected period was 16.6 (4-30) years. Their clinical history resembles Okinawa-type HMSN-P, but without the painful muscle cramps which are distinctive Okinawa-type signs.