Kennedy disease is also known as or subsumes X-linked spinal and bulbar muscular atrophy. -ed.
Kennedy disease is a rare hereditary disorder characterized by proximal limb and bulbar weakness, muscle atrophy, fasciculations (especially perioral), loss of reflexes, tremor, gynecomastia, and diabetes mellitus. It results from an excessive number of trinucleotide (CAG) repeats in the androgen receptor gene on the X chromosome. Due to its X-linked genetic association, males are predominantly affected. Particular clinical features and genetic testing can help distinguish Kennedy disease from amyotrophic lateral sclerosis. Patients with Kennedy disease generally enjoy a normal lifespan, although no treatments are currently available to halt the slow progression of the disorder. In this article, Dr. Stuart Lubarsky and Dr. Colin Chalk from the Department of Neurology and Neurosurgery at McGill University summarize the latest research on Kennedy disease, with particular emphasis on new insights into its natural history, pathophysiological mechanisms, and potential therapeutic strategies.