title: Spinal and Bulbar Muscular Atrophy.
abstract: Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia. Diagnosis is often delayed because of decreased awareness of the disease, although genetic testing allows for direct diagnosis. Therapeutic strategies to block the toxicity of the mutant androgen receptor have been unsuccessful thus far, and evaluation of additional candidate therapies is underway.
authors.affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892, USA. Electronic address: Christopher.grunseich@nih.gov.
authors.forename: Christopher
authors.initials: C
authors.lastname: Grunseich
authors.affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892, USA.
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000818:Animals; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D018450:Disease Progression; D006801:Humans; D008297:Male; D008875:Middle Aged; D011099:Polyglutamic Acid / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen; D011099:Polyglutamic Acid
keywords: Androgen receptor; Kennedy disease; Motor neuron disease; Spinal and bulbar muscular atrophy