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Progeria, officially known as Hutchinson-Gilford Progeria syndrome (HGPS), is a rare genetic disorder that accelerates the aging process in children, causing them to age at a rate approximately eight times faster than normal. The condition was first identified in England in 1886 by Jonathan Hutchinson and later named after him and Hastings Gilford, who further studied the disease. The term "Progeria" is derived from Greek, meaning "prematurely old," reflecting the early aging characteristics of the syndrome. Often referred to as an "early aging disease," Progeria is an exceptionally rare condition, with only around 100 reported cases worldwide since its discovery.
It affects an estimated 1 to 2 children per 8 million, with approximately 40 known cases globally and only 4 in the UK.
Children with Progeria typically exhibit signs of aging before the age of 10 and have a significantly reduced life expectancy, with most not surviving beyond their teenage years.
However, there have been rare cases of individuals with Progeria living into their early 20s. The average lifespan for children with Progeria ranges from 7 to 27.5 years, highlighting the severity and impact of the disease on affected individuals and their families.
Physically, children with Progeria appear normal at birth, but their growth is stunted, often ceasing by the end of the first year.
They may experience a gradual increase in size, reaching the stature of a 2 or 3-year-old child, with a maximum height of around 4 feet, similar to that of a 5-year-old.
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Their distinctive features include a disproportionately large head, a small face, a beaked nose, receding chin, prominent eyes, absence of eyebrows and lashes, and sparse hair.
Dental development is delayed, sometimes necessitating tooth extraction to accommodate new growth.
Their skin is tight and wrinkled, resembling premature aging, and they may develop prominent scalp veins, a narrow chest, a protruding abdomen, and an enlarged spleen.
The complications associated with Progeria often lead to premature death, with cardiovascular problems being the primary cause of mortality in 75% of patients. Despite the devastating impact of the disease, research into Progeria has been limited until recent years. In April 2003, a breakthrough occurred when researchers identified the genetic mutation responsible for Progeria, offering hope to affected families. While there is currently no cure for Progeria, symptomatic treatments such as medication and exercise can help manage the condition.
The exact cause of Progeria remains unknown, but it is believed to stem from a genetic anomaly. The syndrome affects children of all races and ethnicities worldwide, following an autosomal recessive inheritance pattern. This means that individuals carrying a single mutated gene do not exhibit symptoms, but when two carriers have a child, there is a 25% chance that the child will inherit two recessive alleles and develop Progeria.
Progeria is a devastating disease that poses significant challenges for affected individuals and their families. While advancements in research have shed light on the genetic basis of the syndrome, much remains to be understood about its underlying mechanisms and potential treatments. Continued efforts in scientific exploration and medical intervention offer hope for a future where Progeria may be effectively managed or cured, providing a brighter outlook for those impacted by this rare and debilitating condition.
Understanding Progeria: A Rare Genetic Disorder Accelerating Aging. (2016, Jul 03). Retrieved from https://studymoose.com/the-genetic-disease-progeria-essay
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