Ep-PAINE-nym



Huntington’s Disease

 

Other Known AliasesHuntington’s chorea

 

DefinitionAutosomal dominant condition caused by expansion of the cytosine-adenine-guanine (CAG) trinucleotide repeats in the HD gene located on short arm of chromosome 4p16.3 that encodes the protein huntingtin.

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Clinical SignificanceThis condition affects 4-15 in 100,000 peoples of European descent and is extremely rare in non-European lineage.  The classic manifestations of the disease include chorea, psychiatric illness, and dementia.  These symptoms begin very slow and are often missed for a period of time, but always progress to severe deterioration of neuromuscular function.  It is uncurable and treatment is directed towards support and planning of care.  Average length of survival after symptoms onset is 10-20 years

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History – Named after George Huntington (1850-1916), an American physician who received his medical doctorate from Columbia University in 1871 at the age of 21.  He came from a long line of physicians dating back to 1797, when his grandfather opened the family practice in East Hampton.  He took meticulous notes on the disease that bears his name from going on house calls with his father early in his childhood, as well as reading and transcribing notes from his father and grandfather.  He only published two papers in his career, the first of which was on this disease.  He read this manuscript before the Meigs and Mason Academy of Medicine in Middleport, Ohio in 1872 (just 1 year after graduating medical school) and received such acclaim that it was published in the Medical and Surgical Reporter of Philadelphia just 2 months later.  This paper was published in the German literature later that year and his name was forever attached to this disease.  Even William Osler read and commented on this paper in 1908 saying ” In the history of medicine there are few instances in which a disease has been more accurately, more graphically, or more briefly described.”

 

https://upload.wikimedia.org/wikipedia/commons/c/c7/First_page_of_the_article_%22On_Chorea%22_by_G._Huntington_Wellcome_L0005209.jpg


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Huntington’s Disease.  https://ghr.nlm.nih.gov/condition/huntington-disease
  7. Huntington G.  On Chorea.  Medical and Surgical Reporter of Philadelphia.  1972;26(15):317-321 [article]

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