Improvement of Myotonia with Carbamazepine in Three Cases with the Schwartz-Jampel Syndrome

Abstract

Carbamazepine was used as an anti-myotonic agent in three cases with the Schwartz-Jampel syndrome. Clinical myotonia, blepharospasm and a five-stair climbing test improved significantly within two to four months of the initiation of the medication. In the two cases which were followed three and two years, height shifted from under the 3rd centile to the 5th. Carbamazepine may be a drug of choice in the Schwartz-Jampel syndrome.