Print friendly version
Other Names for this Disease
- Bulbospinal muscular atrophy
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.Kennedy disease is a gradually progressive
Last updated: 9/28/2012
- Josef Finsterer. Kennedy disease. Orphanet. July 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=481. Accessed 9/28/2012.
- Albert La Spada. Spinal and Bulbar Muscular Atrophy. GeneReviews. October 13, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1333/. Accessed 9/28/2012.
- Spinal and bulbar muscular atrophy. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy. Accessed 9/28/2012.
- Genetics Home Reference (GHR) contains information on Kennedy disease. This website is maintained by the National Library of Medicine.
- 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.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.