Synonyms:
Spinal and bulbar muscular atrophy (SBMA), Kennedy disease
Diagnosis:
This is a clinical diagnosis supported by NCS/EMG
Clinical features:
- Lower motor neuron (LMN) disease
- Muscle atrophy, weakness, contraction fasciculations, and bulbar involvement
- Gynecomastia, testicular failure
Genetics:
Androgen receptor (AR) gene, expansion of CAG trinucleotide repeat