Procainamide therapy, physical performance and energy expenditure in the Schwartz-Jampel syndrome |
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| Authors: | F Spaans A Wagenmakers W Saris A Reekers P Theunissen H Cremers |
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| Affiliation: | Department of Clinical Neurophysiology, University of Limburg, Maastricht, The Netherlands. |
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| 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. |
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