Kennedy disease with biphasic clinical course and rapid progression.

We report a case of spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, with a 38 CAG-repeat expansion in exon-1 of the androgen receptor gene, presenting with a 2-year history of mild speech difficulty, dysphonia, and occasional choking. Initial clinical features and complementary studies were consistent with SBMA. The disease progression, as assessed by the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised, remained stable over the first 5 years from the onset but showed a rapid decline (from 42 to 24 points) over the next 18 months before his death.