Queston #5952Note

This patient is presenting with bulbar complaints, lower motor neuron findings on exam, and gynecomastia. This combination of symptoms seen in males between the age of 30 and 50 is consistent with Kennedy’s disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA). This syndrome is due to a pathologic number of CAG repeats on the androgen receptor (AR) gene located on the X chromosome. Since it is an X-linked syndrome, female carriers are often not affected.