Harding A E, Thomas P K
J Neurol Neurosurg Psychiatry. 1984 Feb;47(2):168-72. doi: 10.1136/jnnp.47.2.168.
Twenty-five cases of peroneal muscular atrophy with pyramidal features from 15 families are described. This disorder has been referred to as hereditary motor and sensory neuropathy (HMSN) type V by Dyck. Onset was usually in the first two decades of life with difficulty in walking. The clinical syndrome superficially resembled that of HMSN types I and II with distal wasting and weakness involving the legs more than the arms. The tendon reflexes in the upper limbs and at the knee tended to be normal or increased but the ankle jerks were often absent. The plantar responses were extensor in 22 patients, absent in two and flexor in one. Increased tone and weakness in the proximal lower limb muscles were found in about 30% of cases. Mean motor nerve conduction velocity was lower than in normal controls and sensory nerve action potentials were reduced in amplitude or absent in two thirds of the patients studied. Inheritance was autosomal dominant in the majority of families. The disorder was slowly progressive but did not lead to severe disability.
本文描述了来自15个家庭的25例伴有锥体束征的腓骨肌萎缩症患者。Dyck将这种疾病称为遗传性运动和感觉神经病（HMSN）Ⅴ型。发病通常在生命的前二十年，行走困难。临床综合征表面上类似于HMSNⅠ型和Ⅱ型，远端消瘦和无力，累及腿部比手臂更明显。上肢和膝部的腱反射往往正常或增强，但踝反射常消失。22例患者跖反射为伸性，2例消失，1例为屈性。约30%的病例发现下肢近端肌肉张力增加和无力。平均运动神经传导速度低于正常对照组，三分之二的研究患者感觉神经动作电位幅度降低或消失。大多数家庭的遗传方式为常染色体显性遗传。该疾病进展缓慢，但不会导致严重残疾。
