Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Symptoms of progeria essay
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Symptoms of progeria essay
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.
Progeria has many symptoms. Some of these are visible; however, some are less distinctive. Children with Progeria have normal intellectual and emotional development, as well as the development of motor skills such as sitting, standing and walking. This is because the brain and nervous system are completely unaffected (Diseases). However, the children have a failure to grow normally. They usually only grow to three-and-a-half feet tall, at most. Some Progeria symptoms develop very early on in the child’s life, such as a pinched nose, small face and jaw relative to head size, prominent eyes, visible veins, and a high-pitched voice. Other symptoms appear later in the child’s life and then remain, such as hair loss—also known as alopecia, loss of body fat, joint stiffness, aged-skin, osteoarthritis—degeneration of joint cartilage, and cardiac problems (Progeria). All of these symptoms are serious in the context of the child’s age; however, the most severe is the cardiac problem. This is what unfortunately leads to death in the child by causing a heart attack or stroke.
Atherosclerosis, which is hardening of the arteries, is the main ...
... middle of paper ...
... the process of aging in general as well as new treatments for aging-related diseases like heart attack, stroke and dementia.
Works Citied
“Biology of Progeria.” Progeria Syndrome. 2012. Web. 7 May 2014.
“The Connection to Other Diseases.” Progeria Research Foundation. 2014. Web. 6 May 2014.
“Diseases and Conditions – Progeria.” Mayo Clinic. 23 Apr. 2011. Web. 16 Apr. 2014.
“Foxborough’s Sam Berns Dies of Progeria.” The Metrowest Daily News. 11 Jan. 2014. Web. 5
May 2014.
“Learning About Progeria.” National Human Genome Research Institute. 27 Dec. 2013. Web. 15 Apr. 2014.
“Progeria 101 / FAQ.” Progeria Research Foundation. 2014. Web. 15 Apr. 2014.
“Progeria.” Right Diagnosis. 21 Mar. 2014. Web. 16 Apr. 2014.
“Symptoms and Diagnosis.” Progeria Family Circle. May 2006. Web. 16 Apr. 2014.
“What is Progeria.” Medical News Today. 13 May 2009. Web. 15 Apr. 2014.
...is a disease that runs in families and prevents people from sleeping, causes motor and emotional problems, and is eventually a killer. GSS was linked to two mutations in the prion gene in 1989. Prion fragments accumulate in the brain in
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
As a child growning up, a lot of you may have had these certain condition. I think these the the normal conditions of a child in general. All children may not experience these certain condition at the same time in life, but I am sure nearly all ch...
Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013). Hearing loss, abnormalities with pigmentation of hair, eyes, and skin and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments of the symptoms of it as well.
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
Stokes, Okines, and Hayley Okines Old Before My Time : Hayley Okines' Life with Progeria
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).
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
At this stage of the aging individual’s life it should be noteworthy and documented. The
Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment, and support resources available to affected children and their families.
The concept of successful aging is also termed as super aging or optimal health, coined by Rowe & Kahn in 1987. Fundamentally, successful aging in the elderly illustrates neither usual aging (a gradual decrease in biological and psychological functioning) nor pathological aging. Instead, it illustrates a form of aging connected to a reduced possibility of disability or disease, increased physical and cognitive functioning, including autonomy maintained. Aging and old age for a long time presented as dominated by negative traits and states such as sickness, depression and isolation. The aging process is not simply senescence; most people over the age of 65 are not senile, bedridden, isolated, or suicidal (Aldwin & Levenson, 1994).
In an attempt to define ageing one must take in consideration the biophysiological together with the psychosocial aspects; these two aspects are intertwined.
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
Ageing is a continuing life cycle, it is an ongoing developmental event that brings certain changes in one’s own psychological and physical state. It is a time in one's own life where an elderly individual reminisce and reflect, to bask and live on previous accomplishments and begin to finish his life cycle. There is a significant amount of adjusting that requires an elderly individual to be flexible and develop new coping skills to adapt in the changes that are common in their new life. (Dhara & Jogsan, 2013).
This is a genetic condition that is characterized by the dramatic, rapid appearance of aging beginning in childhood. Children with this condition more often have prominent eyes, thin lips, a thin nose, and protruding ears. Alopecia is also common and so is aged looking skin and joint abnormalities. Hardening of the arteries (arteriosclerosis) is also common. This increases the chances of having a heart attack or a stroke. This condition is rare and is reported to occur in 1 in 4 million newborns worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively damaged. The average life expectancy for someone with this disease is approximately 13 years old. There is not a known cure for this disease, but medications and therapy can help alleviate