一个腓骨肌萎缩家族

A Kindred of Peroneal Muscular Atrophy

本文报道一个腓骨肌萎缩家族,调查涉及四代,其中有5人患病(4男,1女)根据家谱分析,本症符合常染色体显性遗传规律。

This paper reports a kindred of peroneal muscular atrophy. Four generations in the kindred have been investigated:4 males of the 5 affected individuals(4 males, 1 females) are still living. The kindred tallies with autosomal dominat inheritance by analysis of their pedigree. The symptoms of the petients appeared at about the age of 50 in the kindred, The proband has pain and numbness in the skin of distal ends of the four limbs, Various kinds of tendon reflex of the proband disappeared all. The symptoms of the other patients are as similar as that of the proband, but the former are less than the latter. It is probable that the expressivity of the other patients are not the same as that of the proband.