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Genetic and Rare Diseases Information Center (GARD)

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Kennedy disease


Other Names for this Disease
  • Bulbospinal muscular atrophy
  • SBMA
  • Spinal and bulbar muscular atrophy
  • Spinobulbar muscular atrophy
  • X-linked bulbospinal amyotrophy
More Names
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Overview


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).[1][2] The condition mainly affects males, with onset between the ages of 30 and 60.[1][2] 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.[1][2] Affected individuals may also have gynecomastia, testicular atrophy (reduction in size or function), and reduced fertility.[2] 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.[3] 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.[1]
Last updated: 9/28/2012

References

  1. 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.
  2. Albert La Spada. Spinal and Bulbar Muscular Atrophy. GeneReviews. October 13, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1333/. Accessed 9/28/2012.
  3. 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.
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Basic Information

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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.