萎缩性肌强直6例临床分析

CLINICAL STUDY IN 6 CASES OF MYOTONIA ATROPHICA

报告萎缩性肌强直6例临床资料,男5例,女1例,起病年龄2～34岁,平均22岁。有特征性分布的肌萎缩、肌强直、先天性白内障等多系统受累。EMG均显示有肌强直电位,收缩后有后放电现象。血清IgG、IgA测定结果降低。本文对起病年龄、性别、家族史、临床表现及实验室检查等方面进行了讨论。

Six cases of myotonia atrophica are reported. Five of them were males and 1 females; their pathogenic ages ranged from 2 to 34 years. The clinical manifestations were chiefly multisystemic involements including muscular atrophy with special distribution, myotonia and congenital cataract. EMG showed various degrees of myotinic discharges and several motor unit potentials with a low amplitude and short duration. We have confirmed the reduction in serum IgG levels and have also found a significantly reduced IgA level in the present group of patients. The pathogenic age, sex, family history, clinical manifestation and laboratory examination of these patients were also discussed.