Case report of x-linked spinal and bulbar muscular atrophy with pronounced facial muscle atrophy and fasciculations

Wiethoff, S. (2024). Case report of x-linked spinal and bulbar muscular atrophy with pronounced facial muscle atrophy and fasciculations (Version 1) [DataSet]. GestaltMatcher Database.

We report a 55 year-old male with progressive muscle weakness, muscle atrophy, and fasciculations, especially in the lower facial muscles and muscles of the neck. The patient showed dysarthria and dysphagia as well as gait difficulties. Additionally, there was mild gynecomastia, testicular atrophy, and a history of reduced fertility. Genetic work-up showed 43 CAG repeats in exon 1 of the AR-gene, thereby confirming the clinical diagnosis of x-linked spinal and bulbar muscular atrophy.