Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome

Autor:	Sally S. Rosengren, Mary-Alice Abbott, William J. Diebold
Rok vydání:	2021
Předmět:	Rare Diseases Psychoanalysis Mucopolysaccharidosis I Mucopolysaccharidosis Philosophy Genetics medicine Humans Syndrome Hurler syndrome medicine.disease Genetics (clinical) Term (time)
Zdroj:	American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:219-223
ISSN:	1552-4876 1552-4868
Popis:	Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. In 1936, Ellis et al. coined the term "gargoylism" to name the syndrome. We propose that the film The Hunchback of Notre Dame played a key role in the original association of Hurler syndrome with the architectural figures known as gargoyles and with the persistence of the term. Over time, due in large part to its extremely negative connotations and lack of accuracy, "gargoylism" was abandoned. It has been supplanted by a sophisticated clinical understanding of mucopolysaccharidosis type 1 (MPS1), the underlying enzymatic defect, and dramatic advances in early diagnosis and treatment.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017e99de9249b9eda2781c71fde28b9b https://doi.org/10.1002/ajmg.c.31903 Zobrazit plný text záznamu