先天性肌强直病又名Thomsen氏病,是以肌强直和全身性肌肥大为特征的罕见疾病。我们曾收治一例,现报告如下。男,22岁,住院号80569。因周身肌肉强直性收缩伴运动障碍5年于84年6月25日入院。病人于79年3月受凉后出现四肢肌肉发紧发硬,坐立时间长时不能立即起步,握拳时手不能立即松开。 Congenital myotonia, also known as Thomsen’s disease, is a rare condition characterized by myotonia and generalized muscle hypertrophy. We have admitted a case, the report is as follows. Male, 22 years old, hospital number 80569. Intensive muscle contraction due to whole body with dyskinesia 5 years in June 25, 1984 admitted. After the patient was cold in March 1979, the muscles of her limbs became tighter and harder. When sitting for a long time, she could not start immediately, and her hands could not be released immediately when her fist was punctured.