Westerberg B, Hagne I, Selldén U
Acta Paediatr Scand. 1983 Sep;72(5):685-93. doi: 10.1111/j.1651-2227.1983.tb09794.x.
Clinical, neurophysiological and laboratory data are given for 32 children (30 kinships) considered to represent hereditary motor and sensory neurophaties (HMSN) of neuronal-axonal types. In 25 families (27 cases) one of the parents was found to be affected. In one both parents were normal. The mode of inheritance in the 27 patients with familial neuronal-axonal HMSN was concluded to be autosomal dominant HMSN II (Lambert type). The disability was mild to moderate and, on an average, less pronounced than in de- and remyelinating types of HMSN. Seven out of 27 were early toe-walkers of the secondary type. Cavus feet were noted in 25, hand atrophies in eight and mild scoliosis in five. Sensory complaints were recorded in 21. The nerve conduction velocities (NCVm and NCVs) of children and parents were slightly subnormal in a few. EMG proved to be the most important parameter for identifying subclinically affected parents.
本文给出了32名儿童（30个家族）的临床、神经生理学和实验室数据，这些儿童被认为代表了神经元轴突型遗传性运动和感觉神经病（HMSN）。在25个家族（27例）中，发现父母一方患病。在1个家族中，父母双方均正常。27例家族性神经元轴突型HMSN患者的遗传方式被推断为常染色体显性HMSN II型（兰伯特型）。残疾程度为轻度至中度，平均而言，比脱髓鞘和再髓鞘型HMSN的症状轻。27例中有7例是继发性早发性足尖行走者。25例有高弓足，8例有手部萎缩，5例有轻度脊柱侧弯。21例有感觉障碍主诉。少数儿童及其父母的神经传导速度（NCVm和NCVs）略低于正常。肌电图被证明是识别亚临床受累父母的最重要参数。
