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

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.

Source: Dermatology and Therapy - January 28, 2024 Category: Dermatology Source Type: research