Progeria Essay

Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).

This is about equivalent to one baby with the disorder being born each year in the United States. Since this disorder was discovered over a century ago, only a little over a hundred cases have been reported, but they were hard to study from because of the lack of technology. The Progeria Research Foundation is the single organization that

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

21. Assume that a couple has four children who are all boys. What are the chances their next child will also be a boy? Explain your answer.

PHYSICAL EXAMINATION: HEENT: Tympanic membranes and external auditory canals are within normal limits. Throat is clear with no gingival lesions. He is ______________. No obvious proliferate retinopoathy. NECK: No carotid bruit. No thyroid enlargement. LUNGS: Clear to auscultation. HEART: No S3, S4 or murmurs. ABDOMEN: Soft with no organomegaly. Normal bowel sounds. FEET: Good dorsalis and posterior tibial pulses bilaterally. Left foot has no abrasions, lesions, sores or ulcers. Right foot shows obvious deformity from previous break. He has an area located between his second and third metatarsal head that has clearly been an abscess that has broken through. He also has an obvious foot ulcer located over the instep of his right foot, full thickness. There is tracking to the broken foot, to which the ulcer area is connected and there is a question of osteomyelitis in this area.

one case in the family. It is important to note that AD can only be definitively

How is it possible for a child to be born looking healthy to then rapidly age and die at an early age? Progeria, a genetic disease, is the answer. This rare disease causes premature aging and is fatal. By looking at the symptoms, the genetic cause, the research for a cure, and what you can do it, is possible to understand progeria.

Progeria, also known as Hutchinson Gilford Progeria Syndrome, and Progeria syndrome, is an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at a very early age. The Progeria come from the Greek words “pro” meaning “before” and “gēras” meaning “old age”. The disorder has a very low incident rate, occurring in an estimated 1 per 8 million live births. Those born with Progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited. Although the term Progeria applies strictly to all diseases characterized by premature aging symptoms, and is often used as

The growth rate is slower than other children that grow normally. Children with progeria syndrome are much shorter and weigh less than the normal growing children their age. Children 9-24 months start to experience growth delays. They have disproportion of a small face compared to the head, an undeveloped jaw, crowded teeth, small eyes, and a small nose. By age two the child experience hair, eyebrow, and eyelashes being loss and replaced by light hair that cannot be visible. Also they can have hip dislocations, strokes, heart attacks, prominent veins on scalp, loss of fat beneath the skin, and skeletal defects. Average die at age thirteen due to heart disease but could range to about eight to twenty one years of

According to Mayo clinic Progeria also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear

Now that scientists know that progeria is usually caused by a change of one letter in the billions of letters in DNA, that change can be seen using a genetic testing. During the genetic sequencing, the gene is “decoded” and its sequence is determined letter by letter (www.progeriaresearch.org). With only sixty-eight people reported in the world with this disease, progeria is caused by a change in the DNA in the gene called LMNA. The LMNA gene produces a protein called Lamin A, which structure holds the nucleus of a cell together. Researchers came to the belief that with the defective Lamin A protein, it makes the nucleus unstable leading to the rapid aging.

Progeria is a little known progressive genetic disorder. This extremely rare, highly fatal, genetic disorder, which comes from the Greek “progeros” meaning “prematurely aging” (Gale Encyclopedia, p. 2202). With the Greek language “pro” is meant to mean before, and “geras” meant for old were combined to create the meaning of this disorder. Commonly referred to as “Progeria”, this disorder is named Hutchinson-Gilford Progeria Syndrome; HGPS for short, was first described in an academic journal by two English doctors, Dr. Jonathan Hutchinson in 1886, and Dr. Hastings in 1897.

The average life expectancy of a child with Progeria is thirteen years old but some have been known to live past this age. Because their bodies age ten times faster than normal, they start to experience health problems that would usually come later in life, as early as their teenage years. There are precautions and treatments that can be used to reduce the time in which illnesses will occur, but initially these children will have many health problems including hardening of the arteries, heart attack, stroke, etc. (“Progeria”,

Hutchinson-Gilford progeria syndrome was first reported by a man named Dr. Jonathan Hutchinson in 1886 (Gordon, Rothman, Lόpez-Otin, & Misteli, 2014). In 1904, Hastings Gilford further expanded on Hutchinson’s work. Both men contributed greatly to reporting, researching, and contributing to the knowledge of this disease and it was thus named Hutchinson Gilford progeria syndrome, or HGPS for short (Gordon, et al., 2014; Gordon, Brown, & Collins, 2015). The syndrome’s name – progeria – derives from the Greek language: pro meaning “before” and geron commonly meaning “old person” or “old age” and together meaning “prematurely old” (Coutinho, Falcᾶo-Silva, Goncalves, & da Nόbrega, 2009; Pollex & Hegele, 2004; Gordon et al, 2014; Tsiligirl, Fekos, Theodoridou, & Lavdaniti, 2015)

R.M is the first youngest child, two sisters, healthy, parents married, father had chronic alcoholism, mother remains in perfect general health, not known disease or condition. Grandmother on father’s side T.E, died at age 78, from cardiac arrest; Grandfather on father’s side, R.M, died at age 45, from automobile accident; Grandmother on mother’s side, L.S, suffered from Parkinson, died at age 79,