Other Names for this Disease
- Bulbospinal muscular atrophy
- SMAX1-related spinobulbar muscular atrophy
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
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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. 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. 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. 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.Kennedy disease is a gradually progressive,
Last updated: 9/21/2015
- 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. July 3, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1333/.
- Genetics Home Reference (GHR) contains information on Kennedy disease. This website is maintained by the National Library of Medicine.
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