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Other Names for this Disease
- Bulbospinal muscular atrophy
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
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Kennedy disease is a gradually progressive neuromuscular disorder chiefly characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat). The condition mainly affects males, with onset between the ages of 30 and 60. Early signs and symptoms may include tremor, muscle cramps and muscle twitching, followed by progressive muscle weakness and wasting which may manifest in a variety of ways. Affected individuals may also have gynecomastia, testicular atrophy (reduction in size or function), and reduced fertility. It is caused by a mutation in the androgen receptor (AR) gene, in which a DNA segment known as a CAG triplet repeat is abnormally expanded. It is inherited in an X-linked recessive manner. Treatment may include physiotherapy and rehabilitation, medications for tremor and muscle cramps, and hormone therapy or surgical treatment of gynecomastia.
- Josef Finsterer. Kennedy disease. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=481. Accessed September 28, 2012.
- Albert La Spada. Spinal and Bulbar Muscular Atrophy. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1333/. Accessed September 28, 2012.
- Spinal and bulbar muscular atrophy. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy. Accessed September 28, 2012.
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- Genetics Home Reference (GHR) contains information on Kennedy disease. Click on the link to go to GHR and review the information.
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- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kennedy disease. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Kennedy disease. Click on the link to go to OMIM and review these resources.