The DNA diagnosis for bulbospinal muscular atrophy.

We showed the analysis of the androgen receptor gene in 6 patients with bulbospinal muscular atrophy (BSMA). Four of them had typical manifestations of Kennedy's disease, while the other 2 patients did not show androgen insensitive signs such as gynecomastia or testicular atrophy. Enlarged CAG repeats were found in 4 patients with typical Kennedy's disease and 1 patient without androgen insensitive signs. This fact suggests that the DNA diagnosis by analysis of the androgen receptor gene is very useful to distinguish Kennedy's disease from other forms of BSMA.