List of eponymous diseases

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An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a fictional character who exhibited signs of the disease; and, in some few instances, after an actor or the subject of a literary allusion, because characteristics associated with them were suggestive of symptoms observed in a particular disorder.

Contents

Naming systems

Eponyms are a longstanding tradition in Western science and medicine. Being awarded an eponym is regarded as an honor: "Eponymity, not anonymity, is the standard." [1] The scientific and medical communities regard it as bad form to attempt to eponymise oneself. [2]

Ideally, to discuss something, it should have a name. When medicine lacked diagnostic tools to investigate and definitively pinpoint the underlying causes of many diseases, assigning an eponym afforded physicians a concise label for a symptom cluster versus cataloguing the multiple systemic features that characterized the patient.

Some diseases are named for the person, most often a physician, but occasionally another health care professional, who first described the condition—typically by publishing an article in a respected medical journal. Less frequently, an eponymous disease is named after a patient, examples being Lou Gehrig disease, Hartnup disease, and Mortimer disease. In one instance, Machado–Joseph disease, the eponym is derived from the surnames of two families in which the condition was initially described. Examples also exist of eponyms named for fictional persons who displayed characteristics attributed to the syndrome; these include Miss Havisham syndrome, named for a Dickens character, and Plyushkin syndrome, named for a Gogol character (the two also happen to be alternative names for the same symptom complex). At least two eponymous disorders follow none of the foregoing conventions: Fregoli delusion draws its name from an actor whose character shifts mimicked the type of delusion it now describes; Munchausen syndrome derives from a literary allusion to Baron von Munchausen, whose personal habits were suggestive of the symptom cluster associated with it.

Disease naming structures which reference place names (such as Bornholm disease, Lyme disease, and Ebola virus disease) are properly termed toponymic, although an NLM/NIH online publication described them as eponymic. [3] Diseases named for animals with which they are associated, usually as a vector, are properly styled as zoonymic; cat scratch fever and monkeypox are examples. Those named for association with a particular occupation or trade, examples of which include nun's knee, tennis elbow, and mad hatter's disease, are properly described as occupational diseases.

In May 2015, the World Health Organization, in collaboration with the World Organization for Animal Health (OIE) and the Food and Agriculture Organization of the United Nations (FAO), released a statement on the Best Practices for the Naming of New Human Infectious Diseases "with the aim to minimize unnecessary negative impact of disease names on trade, travel, tourism or animal welfare, and avoid causing offence to any cultural, social, national, regional, professional or ethnic groups." [4] These guidelines emerged in response to backlash against people and places, based on the vernacular names of infectious diseases such as Middle East respiratory syndrome, and the 2009 swine flu pandemic. [5] These naming conventions are not intended to replace the International Classification of Diseases, but rather, are guidelines for scientists, national authorities, the national and international media and other stakeholders who may be the first to discuss a disease publicly.

Punctuation

In 1975, the Canadian National Institutes of Health held a conference that discussed the naming of diseases and conditions. This was reported in The Lancet where the conclusion was summarized as: "The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder." [6] Medical journals, dictionaries and style guides remain divided on this issue. European journals tend towards continued use of the possessive, while US journals are largely discontinuing its use. [7] The trend in possessive usage varies between countries, journals, and diseases. [8]

The problem is, in fact, that the possessive case was given its misleading name for historical reasons and that now even educated people, if they are not linguists, often make incorrect assumptions and decisions based on this misleading name. Nevertheless, no native speakers would accept the ungrammatical "men department" as a possible way of saying "men's department" nor claim that this "possessive" and obligatory apostrophe in any way imply that men possess the department.

This case was called the genitive until the 18th century and (like the genitive case in other languages) in fact expresses much more than possession. For example, in the expressions "the school's headmaster", "the men's department", and "tomorrow's weather", the school does not own/possess the headmaster, men don't own/possess the department, and tomorrow does not/will not own the weather. Most disagreements about the use of possessive forms of nouns and of the apostrophe are due to the erroneous opinion that a term should not use an apostrophe if it does not express possession. [9]

In the words of Merriam-Webster's Dictionary of English Usage: [10]

The argument is a case of fooling oneself with one's own terminology. After the 18th-century grammarians began to refer to the genitive case as the possessive case, grammarians and other commentators got it into their heads that the only use of the case was to show possession.... Simply changing the name of the genitive does not change or eliminate any of its multiple functions.

This dictionary also cites a study [11] that found that only 40% of the possessive forms were used to indicate actual possession. [12]

Autoeponym

Associating an individual's name with a disease merely based on describing it confers only an eponymic; the individual must have been either affected by the disease or have died from it for the name to be termed autoeponymic. Thus, an 'autoeponym' is a medical condition named in honor of: a physician or other health care professional who was affected by or died as a result of the disease which he had described or identified; or, a patient, who was not a health care professional, but suffered from or died as a result of the disease. [13] Autoeponyms may use either the possessive or non-possessive form, with the preference to use the non-possessive form for a disease named for a physician or health care professional who first described it and the possessive form in cases of a disease named for a patient (commonly, but not always, the first patient) in whom the particular disease was identified. [14] Autoeponyms listed in this entry conform to those conventions with regard to the possessive and non-possessive forms.

Examples of autoeponyms include:

The current trend is away from the use of eponymous disease names and towards a medical name that describes either the cause or primary signs. [4] Reasons for this include:

Arguments for maintaining eponyms include:[ citation needed ]

The usage of the genitive apostrophe in disease eponyms has followed different trends. While it remains common for some diseases, it has dwindled for others. [17]

Alphabetical list

Explanation of listing sequence

As described above, multiple eponyms can exist for the same disease. In these instances, each is listed individually (except as described below), followed by an in-line parenthetical entry beginning 'aka' ('also known as') that lists all alternative eponyms. This facilitates the use of the list for a reader who knows a particular disease only by one of its eponyms, without the necessity of cross-linking entries.

It sometimes happens that an alternative eponym, if listed separately, would immediately alphabetically precede or succeed another eponymous entry for the same disease. Three conventions have been applied to these instances:

1. No separate entry appears for the alternative eponym. It is listed only in the parenthetical 'aka' entry (e.g., Aarskog syndrome appears only as a parenthetical entry to Aarskog–Scott syndrome).
2. If eponymous names subsequent to the first are sequenced differently or the eponym is differentiated by another term (e.g., disease versus syndrome), alphabetical sequence dictates which is the linked version versus which is listed as the alternative (e.g., Abderhalden–Kaufmann–Lignac is the linked entry and Abderhalden–Lignac–Kaufmann is the parenthetical alternative entry).
3. If the number of names included in two or more eponyms varies, the linked entry is the one which includes the most individual surnames (e.g., Alpers–Huttenlocher syndrome is the linked entry for the disease also known as Alpers disease or Alpers syndrome).



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See also

Related Research Articles

The year 1827 in science and technology involved some significant events, listed below.

This is a list of scientific phenomena and concepts named after people. For other lists of eponyms, see eponym.

<span class="mw-page-title-main">Jean-Martin Charcot</span> French neurologist (1825–1893)

Jean-Martin Charcot was a French neurologist and professor of anatomical pathology. He worked on hypnosis and hysteria, in particular with his hysteria patient Louise Augustine Gleizes. Charcot is known as "the founder of modern neurology", and his name has been associated with at least 15 medical eponyms, including various conditions sometimes referred to as Charcot diseases.

<span class="mw-page-title-main">Prosector</span>

A prosector is a person with the special task of preparing a dissection for demonstration, usually in medical schools or hospitals. Many important anatomists began their careers as prosectors working for lecturers and demonstrators in anatomy and pathology.

<span class="mw-page-title-main">William Stokes (physician)</span>

William Stokes was an Irish physician, who was Regius Professor of Physic at Trinity College Dublin. He graduated from the University of Edinburgh Medical School with an MD in 1825 later returning the practice in Dublin at Meath Hospital. He went on to create two important works on cardiac and pulmonary diseases – A Treatise on the Diagnosis and Treatment of Diseases of the Chest (1837) and The Diseases of the Heart and Aorta (1854) – as well as one of the first treatises on the use of the stethoscope. He emphasised the importance of clinical examination in forming diagnoses, and of ward-based learning for students of medicine.

<span class="mw-page-title-main">Paget–Schroetter disease</span> Medical condition

Paget–Schroetter disease is a form of upper extremity deep vein thrombosis (DVT), a medical condition in which blood clots form in the deep veins of the arms. These DVTs typically occur in the axillary and/or subclavian veins.

<span class="mw-page-title-main">Albright's hereditary osteodystrophy</span> Form of osteodystrophy and a rare human disease

Albright's hereditary osteodystrophy is a form of osteodystrophy, and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.

Adams–Stokes syndrome, Stokes–Adams syndrome or Gerbec–Morgagni–Adams–Stokes syndrome is a periodic fainting spell in which there is intermittent complete heart block or other high-grade arrhythmia that results in loss of spontaneous circulation and inadequate blood flow to the brain. Subsequently, named after two Irish physicians, Robert Adams (1791–1875) and William Stokes (1804–1877), the first description of the syndrome is believed to have been published in 1717 by the Carniolan physician of Slovene descent Marko Gerbec. It is characterized by an abrupt decrease in cardiac output and loss of consciousness due to a transient arrhythmia; for example, bradycardia due to complete heart block.

<span class="mw-page-title-main">Progressive muscular atrophy</span> Medical condition

Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.

<span class="mw-page-title-main">Gabriel Anton</span> Austrian neurologist and psychiatrist

Gabriel Anton was an Austrian neurologist and psychiatrist. He is primarily remembered for his studies of psychiatric conditions arising from damage to the cerebral cortex and the basal ganglia.

<span class="mw-page-title-main">Jean Nageotte</span>

Jean Nageotte was a French neuroanatomist born in Dijon.

<span class="mw-page-title-main">Ciliopathy</span> Genetic disease resulting in abnormal formation or function of cilia

A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.

References

  1. Merton R K, 1973
  2. Gordon, BL (1971). Current medical information and terminology (4th ed.). Chicago.
  3. "How are genetic conditions and genes named?: MedlinePlus Genetics".
  4. 1 2 WHO (May 2015). "World Health Organization Best Practices for the Naming of New Human Infectious Diseases". World Health Organization: 3. Retrieved 24 June 2020.{{cite journal}}: Cite journal requires |journal= (help)
  5. WHO (8 May 2015). "News News releases Statements Notes for the media Previous years Commentaries Events Fact sheets Fact files Questions & answers Features Multimedia Contacts WHO issues best practices for naming new human infectious diseases". World Health Organization. Retrieved 24 June 2020.
  6. "Classification and nomenclature of morphological defects". Lancet . 1 (7905): 513. March 1975. doi:10.1016/S0140-6736(75)92847-0. PMID   46972. S2CID   37636187.
  7. Jana N, Barik S, Arora N (2009-03-09). "Current use of medical eponyms—a need for global uniformity in scientific publications". BMC Med Res Methodol . 9: 18. doi: 10.1186/1471-2288-9-18 . PMC   2667526 . PMID   19272131.
  8. Macaskill MR, Anderson TJ (16 April 2013). "Whose name is it anyway? Varying patterns of possessive usage in eponymous neurodegenerative diseases". PeerJ. 1: e67. doi: 10.7717/peerj.67 . PMC   3642700 . PMID   23646286.
  9. Neal Whitman. "Possessives". quickanddirtytips.com. Archived from the original on 2017-06-16. Retrieved 2017-06-16.
  10. Merriam-Webster's Dictionary of English Usage . Merriam-Webster. 1994. p.  475. ISBN   978-0-87779-132-4.
  11. Fries, Charles Carpenter (1940). American English Grammar: The Grammatical Structure of Present-day American English with Especial Reference to Social Differences Or Class Dialects . Appleton-Century. (not checked by editor)
  12. Merriam-Webster's Dictionary of English Usage . Merriam-Webster. 1994. p.  475. ISBN   978-0-87779-132-4. The only statistical investigation of the genitive case that we are aware of can be found in Fries 1940. Fries found that the possessive genitive was the most common, but that it accounted for only 40 percent of all genitives.
  13. Segen, J. C. (1992). The dictionary of modern medicine. Taylor & Francis. ISBN   9781850703211.
  14. "For eponyms, AAMT advocates dropping the possessive form". MTStars. Retrieved 23 July 2011.
  15. Weiss, Emilio, Strauss, Bernard S. (1991). "The Life and Career of Howard Taylor Ricketts". Reviews of Infectious Diseases. Vol. 13. The University of Chicago. pp. 1241–2.{{cite book}}: CS1 maint: multiple names: authors list (link)
  16. Thomsen, Julius (1875). "Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter physischer Disposition (Ataxia muscularis?)". Archiv für Psychiatrie und Nervenkrankheiten. Berlin. 6: 702–718. doi:10.1007/bf02164912. S2CID   46151878.
  17. MacAskill, Michael R.; Anderson, Tim J. (16 April 2013). "Whose name is it anyway? Varying patterns of possessive usage in eponymous neurodegenerative diseases". PeerJ. 2013 (1): e67. doi: 10.7717/peerj.67 . PMC   3642700 . PMID   23646286.