Open access
Sep 2026
Schwartz-Jampel Syndrome: A Case Report with Clinical and Phenotypic Insights
In early-onset myotonic disorders, SJS should be considered with characteristic craniofacial and skeletal features, and symptomatic treatment with sodium-channel–blocking agents and multidisciplinary rehabilitation may confer functional benefit.
Komal J Rathod, P. S. Parihar, Ramesh R. Chaple et al.
· Journal of Clinical and Diag... · 0 citations