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Updated: Mar 31, 2026
Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Spinal and Bulbar Muscular Atrophy
Christopher Grunseich1, Kenneth H Fischbeck1
1Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892, USA.
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.
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