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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 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.

SUBMITTER: Suphatsathienkul P

PROVIDER: S-EPMC10890988 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature

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

Suphatsathienkul Panittra P Sakpichaisakul Kullasate K Wechapinan Thanin T Trachoo Objoon O Virawan Sorawit S Wanitphakdeedecha Rungsima R

Dermatology and therapy 20240128 2

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 ty ...[more]

PMID: 38285320

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