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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kennedy disease


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

Kennedy disease is a gradually progressive, neuromuscular disorder 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.[1] Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways.[1][2] Affected people may also have gynecomastia, testicular atrophy (reduction in size or function of the testes), and reduced fertility as a result of mild androgen insensitivity.[2] Kennedy disease is caused by a mutation in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner. Treatment may include physiotherapy and rehabilitation; medications to alleviate tremor and muscle cramps; and hormone therapy or surgical treatment for gynecomastia.[1][2]
Last updated: 9/21/2015

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. July 3, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1333/.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. 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.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • Spinal and bulbar muscular atrophy
  • X-linked spinal and bulbar muscular atrophy
  • Bulbospinal muscular atrophy
  • X-linked bulbospinal amyotrophy
  • Spinobulbar muscular atrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.