中国腓骨肌萎缩症的临床特点

Clinical features of peroneal muscular atrophy in China.

总结国内文献报道及本院腓骨肌萎缩症（共１７５个家系、３３８例患者）的临床特点并与国外资料比较，发现国内患者男较女多，平均发病年龄１５．０岁。７６．５％Ⅰ型患者在２０岁前起病，５０％Ⅱ型于２０岁后起病。７９．０％先累及下肢，上肢肌萎缩、感觉障碍、踝反射降低及消失、弓形足分别为６３．６％、３９．６％、９７．０％、７４．２％。家族史阳性率为４７．４％，其中常显５３例，常隐１５例，Ｘ隐５例，Ｘ显１例，散发占４５．０％。肌酶增高占２６．５％。神经传导速度和周围神经活检结果符合遗传性运动和感觉神经病（ＨＭＳＮ）Ⅰ型１３０例（５５个家族），Ⅱ型１８例（１４个家族）。Ⅰ型患者弓形足及肌酶增高者较Ⅱ型常见。周围神经病理，Ⅰ型为脱髓鞘、雪旺氏细胞增生和洋葱头样结构形成，Ⅱ型为慢性轴索变性。

Clinical manifestations of peroneal muscular atrophy(HMSN types ⅠandⅡ) patients collected from literatures published in China and from our hospital were analysed.Total number of patients was 338 from 175 families(52 patients,46 families from our hospital).Ratio of male to female was 1.75:1.Incidences of muscle wasting in hands, sensory loss,decreased tendom reflexes in lower limbs and pes cavus were 63.6%,39.6%,97.0%and 74.2% respectively.Positive familial history was 47.2%.More than 3/4 patients of HMSN Ⅰ present symptoms before age of 20,while 1/2 patients with HMSN Ⅱ after 20 years.There was a significantly increased incidence of pes cavus and elevating serum muscular enzymes in HMSN Ⅰ than in HMSN Ⅱ.The histopathological feature of HMSN Ⅰ was demyelination and formation of bulb like structures,while HMSN Ⅱ was chronic axonal degeneration.