施瓦茨-扬佩尔综合征中的普鲁卡因胺治疗、身体机能与能量消耗

Procainamide therapy, physical performance and energy expenditure in the Schwartz-Jampel syndrome.

作者信息

Spaans F, Wagenmakers A, Saris W, Reekers A, Theunissen P, Cremers H

机构信息

Department of Clinical Neurophysiology, University of Limburg, Maastricht, The Netherlands.

出版信息

Neuromuscul Disord. 1991;1(5):371-4. doi: 10.1016/0960-8966(91)90124-b.

DOI:10.1016/0960-8966(91)90124-b

PMID:1822347

Abstract

The effects of procainamide administration were assessed in a 5-yr-old boy with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Without procainamide the resting metabolic rate was found to be significantly higher than in an age-matched control group. With a serum level of 3.8 mg l-1 procainamide a reduction of the resting metabolic rate of 22% was observed, and times needed to climb stairs and to re-open eyes after forceful contraction (blepharospasm) were significantly reduced.

摘要

在一名患有施瓦茨 - 詹佩尔综合征（软骨营养障碍性肌强直）的5岁男孩身上评估了普鲁卡因胺给药的效果。在未使用普鲁卡因胺时，发现其静息代谢率显著高于年龄匹配的对照组。当血清普鲁卡因胺水平为3.8 mg l-1时，观察到静息代谢率降低了22%，且爬楼梯所需时间以及用力收缩（眼睑痉挛）后重新睁开眼睛所需时间均显著减少。