Bulbo-Spinal Muscular Atrophy (SMAX1; BSMA; SBMA; Kennedy Syndrome)

Overview

●CAG repeats Androgen receptor protein Clinical features Clinical-genetic correlations Epidemiology Laboratory features Onset Pathogenic mechanisms Pathology Bulbo-Spinal Muscular Atrophy Gynecomastia Mouth in BSMA Attempted smile & At rest Tongue in BSMA Wasted; Weak; Moves rapidly History: 1st description Hiroshi Kawahara: 1897 2 brothers and an uncle with tongue fasciculations & progressive weakness Epidemiology Most common adult onset SMA General frequency: 1 in 6,887 to 50,000 192 SBMA especially common in Vasa region of western Finland: Scandanavian founder haplotype Some regions in Japa

OMIM Entries

External Resources