Open access
Unexpected Conduction Blocks in SORD ‐Related Distal Motor Neuropathy: A Case Report
Amiela Angeli Bucur
G. Rodolico
Alessandra Tessa
F. Santorelli
Martina Sperti
Deborah Leccese
Mario Maturo
S. Matà
Medicine
Abstract
Distal weakness requires an extensive differential diagnosis. In this case, conduction blocks indicated multifocal motor neuropathy, but immunotherapy proved ineffective. Ultimately, genetic testing revealed a sorbitol dehydrogenase mutation, highlighting the importance of combining electrophysiological findings with molecular studies in cases where the diagnosis remains unclear.