先天性肌强直伴疼痛性肌肉收缩。

Myotonia congenita with painful muscle contractions.

作者信息

Sanders D B

出版信息

Arch Neurol. 1976 Aug;33(8):580-2. doi: 10.1001/archneur.1976.00500080058009.

DOI:10.1001/archneur.1976.00500080058009

Abstract

We present a family with dominantly inherited myotonia congenita and painful, electrically silent muscle contractions after exertion. In two family members, painful muscle contractions occurred coincident with hypothyroidism, and improved after thyroid replacement therapy. It is probable that this family represents a disease that is similar to but distinct from the dominant form of myotonia congenita.

摘要

我们报告了一个患有显性遗传性先天性肌强直且在运动后出现疼痛性、电静息性肌肉收缩的家系。在两名家族成员中，疼痛性肌肉收缩与甲状腺功能减退同时出现，并在甲状腺替代治疗后有所改善。这个家系可能代表了一种与显性先天性肌强直相似但又不同的疾病。