Spinal and bulbar muscular atrophy, Kennedy disease

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

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