Spinal and bulbar muscular atrophy

Bulbospinal muscular atrophy, X-linked; KD; Kennedy disease; Kennedy spinal and bulbar muscular atrophy; SBMA

Kennedy disease (KD) or X-linked spinal-bulbar muscle atrophy is a neuromuscular disease associated with mutations of the androgen receptor (AR). Because of its endocrine manifestations related to the impairment of the AR, it can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is named after WR Kennedy, a neurologist who was among the first to describe this disease. Genetics As a sex-linked disease, KD affects males, while females are carriers. ...