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

Autor: Panittra Suphatsathienkul, Kullasate Sakpichaisakul, Thanin Wechapinan, Objoon Trachoo, Sorawit Virawan, Rungsima Wanitphakdeedecha
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Dermatology and Therapy, Vol 14, Iss 2, Pp 545-556 (2024)
Druh dokumentu: article
ISSN: 2193-8210
2190-9172
DOI: 10.1007/s13555-023-01088-7
Popis: 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 encodes perlecan, a component of the basement membrane. The management of patients with SJS primarily aims to alleviate symptoms related to muscle stiffness. In this report, we describe a male patient with SJS type 1A. Trio whole-exome sequencing identified a pathogenic mutation (NM_001291860.1: c.10897C>T; p.Arg3633Ter) and variants of unknown significance (NM_001291860.2: c.413+10G>T). The patient experienced difficulty in opening his eyes and mouth, which significantly limited his daily activities. Botulinum toxin A injection was administered and demonstrated significant clinical improvement after the treatment.
Databáze: Directory of Open Access Journals
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