Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections

Abstract

A 6-year-old boy with Schwartz-Jampel syndrome and severe myotonia-induced blepharospasm and ptosis did not respond to botulinum toxin A injections in the orbicularis muscle. The clinical diagnosis was further supported by electromyography. Surgical management using a combination of techniques in one operation produced a satisfactory result for both function and appearance. Muscle biopsy was also done during surgery.