Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease [1], is an X-linked neuromuscular disease caused by a CAG repeat expansion in the androgen receptor gene. Affected males develop weakness, atrophy, and fasciculations in the limb and bulbar muscles during adulthood. In addition to the motor effects, degeneration of the dorsal root ganglia can result in a loss of sensory function in the distal extremities. Patients also often show evidence of androgen insensitivity, such as gynecomastia, oligospermia, and erectile dysfunction.

Source: Neuromuscular Disorders - July 3, 2014 Category: Neurology Authors: Christopher Grunseich, Ilona R. Kats, Laura C. Bott, Carlo Rinaldi, Angela Kokkinis, Derrick Fox, Ke-lian Chen, Alice B. Schindler, Ami K. Mankodi, Joseph A. Shrader, Daniel P. Schwartz, Tanya J. Lehky, Chia-Ying Liu, Kenneth H. Fischbeck Tags: Case report Source Type: research