Progeria, which is pronounced /proʊˈdʒɪəriə/, is a rare genetic disorder characterized by premature aging. The word itself has a Greek origin, with "pro" meaning "before" and "gēras" meaning "old age". The spelling of "progeria" includes the combination of letters "ger" which can be pronounced as /dʒər/ or /gər/ depending on the word. In this case, "ger" is pronounced as /dʒɪər/. The phonetic transcription of "progeria" helps to clarify any confusion and ensures accurate pronunciation of the word.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare genetic disorder characterized by premature aging in children. The term "progeria" originates from the Greek words "pro" (meaning "premature") and "gēras" (meaning "old age"). This condition affects approximately 1 in 20 million individuals worldwide and is caused by a spontaneous genetic mutation.
The primary manifestations of progeria include growth retardation, distinct facial features (such as a disproportionately small face and jaw, prominent eyes, a thin nose, and a scalp with very little hair), skin abnormalities, and diminished body fat and muscle. Children with progeria often face various health complications, such as cardiovascular issues, joint stiffness, fragile bones, and delayed development. Moreover, they are prone to experiencing symptoms more commonly associated with old age, including atherosclerosis, hip dislocations, and arthritis.
Progeria is caused by a mutation in the LMNA gene, which affects the production of lamin A, a protein that helps maintain the stability of a cell's nucleus. This mutation results in the production of a truncated form of lamin A called progerin, leading to the various physical and physiological abnormalities associated with the disorder.
Unfortunately, there is no cure for progeria as it is a genetic condition. However, symptomatic treatments can be utilized to manage the complications and improve the quality of life for affected individuals. Research and clinical trials continue to explore potential therapeutic approaches to tackle the underlying genetic mutation.
A condition characterized by a mixture of infantilism and premature senility; the subject presenting the mental and physical characters of old age, with persistence of the milk teeth, absence of the hairy growth normal at puberty, and persistence of the thymus.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "progeria" is derived from the Greek words "πρό" (pro), meaning "before", and "γῆρας" (geras), meaning "old age". When combined, they form "πρόγερως" (progeros), which translates to "prematurely old". The term was coined by Jonathan Hutchinson, a British physician, in 1886 to describe the rare genetic disorder characterized by the appearance of accelerated aging in children.