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

• Auteurs principaux: Panittra Suphatsathienkul (Auteur), Kullasate Sakpichaisakul (Auteur), Thanin Wechapinan (Auteur), Objoon Trachoo (Auteur), Sorawit Virawan (Auteur), Rungsima Wanitphakdeedecha (Auteur)
• Format: Livre
• Publié: Adis, Springer Healthcare, 2024-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...