Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

• Main Authors: Panittra Suphatsathienkul (Author), Kullasate Sakpichaisakul (Author), Thanin Wechapinan (Author), Objoon Trachoo (Author), Sorawit Virawan (Author), Rungsima Wanitphakdeedecha (Author)
• Format: Book
• Published: Adis, Springer Healthcare, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities. This condition is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene, which enc...