Progeria
Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because
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They usually have cloudy corneas and possibly blue sclera, which is when the white portion of the eyeball is blue. Most children infected with this disorder are bald by the time they are four years old and usually don’t grow any taller than three feet. They also typically weigh between 30 to 35 pounds. Not only does the appearance age, but also the organs experience the accelerated rate of aging. The spleen is usually enlarged. A child with Progeria will never reach puberty. Children with Progeria usually don’t die by “old age.” Instead, they usually die at the average age of 13 from a cardiovascular disease, arteriosclerosis of some other disease that usually affects the very old.
Once called the “leprechaun’s disease”, Hutchinson-Gilford Progeria Syndrome was first described in 1886 by the English surgeon Jonathan Hutchinson and by Hastings Gilford in 1904. The main reason why it took so long to find the gene for Childhood Progeria is that it only affects about one baby in every four million to eight million in the world.
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
Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.
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.
Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin
Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.
Progeria is a very rare disease and affects about one in 4-8 million children, with an estimated 200-250 cases worldwide. It affects males and females equally and is found in all races. HGPS is not usually passed down in families; it’s extremely rare and almost always happens by
beginning with growth failure during the first year of life. Progeria is a rare condition but has come into
Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria. Every child showing improvement in one or more of four ways: gaining additional weight, better hearing, improved bone structure and/or, most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published September 24, 2012 in Proceedings of the National Academy of Sciences(no author, first treatment
It is not a very common disorder, but one factor that can contribute to this condition is when a woman over the age of 35 gives birth. As a woman ages so do her eggs. The genetic information inside the egg has a greater chance of being altered. Mutations and nondisjunction are more likely to occur in older eggs. Doctors have found that this disorder is really caused by random chance of a problem that occurs during meiosis. Parents of a Klinefelter boy are not to blame for their son having this condition.
They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia
When babies with Bloom Syndrome are born, they are recognizable by their small weight, large head width wise, short height, and sometimes even extra fingers. Some genetic testing may be done to make sure that the child has Bloom Syndrome, but most likely one of the parents is a carrier of this disease, or has this disease. This disease does not have many treatment options, but there is somethings to make their lives easier. Some of those
The parents of an affected baby are carriers and will have a one in four risk of any future baby of that they decide to have being similarly affected.
The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.
The disease may be found on a chromosome analysis. There is no said or found cure or treatment for the disease. It’s very rare, but not impossible, to get the disease from parents or grandparents.
Klinefelter Syndrome (47, XXY), Jakob Syndrome (47, XYY), Down Syndrom (47, 21+), Patau Syndrome (47, 13+), Edwards Syndrome (47, 18+).
Hutchinson- Gilford Progeria Syndrome is reported about 1 in 8 million newborns (Parker 16). Hutchinson-Gilford Progeria Syndrome equally affects both sexes and races of children and gives them an appearance of rapid aging (Nordqvist 1). The symptoms of this disease show around eighteen to twenty-four months of