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

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

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...

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Bibliographic Details
Main Authors: Panittra Suphatsathienkul, Kullasate Sakpichaisakul, Thanin Wechapinan, Objoon Trachoo, Sorawit Virawan, Rungsima Wanitphakdeedecha
Format: Article
Language:English
Published: Adis, Springer Healthcare 2024-01-01
Series:Dermatology and Therapy
Subjects:
Schwartz-Jampel syndrome
Myotonia
Botulinum toxin
Blepharophimosis
HSPG2
Online Access:https://doi.org/10.1007/s13555-023-01088-7

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