Hutchinson Gilford Progeria Research Paper

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.

There are two types of Progeria. They are Hutchison-Gilford Syndrome (HGPS) and Werner Syndrome, and the most common type is HGPS. According to MNT, Medical News Today, “Progeria is a rare genetic condition that causes a person to age prematurely. Children with progeria appear healthy, but by the age of 2 years, they look as if they have become old too fast”.

A child with progeria does not show symptoms at birth; however, within the first two years the disease will make itself known. Signs of progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis (the buildup of fat and cholesterol in the arteries), cardiovascular (heart) disease and stroke. Despite differences in ethnic

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.

Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford.” The cure of progeria is yet to be discovered, because of this it is still in the research phase. “Although they are usually born looking healthy, most children with Progeria begin to display many characteristics of Progeria within the first 2 years of life” (Mayo clinic). Currently progeria is prevalent in all parts of the world, scientists and researchers are currently testing a new drug called Lonafarnib. This drug was originally used to treat cancer, but has proven effective for progeria. “Generally speaking, there is no way to pass this disorder along, since the mutation is spontaneous when it comes to the birth of a child.” (Americanpregnancy.org) This means that there is no big concern with progeria, since it can't be passed through genes and

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

Progeria, an extremely rare disease caused by a slight genetic defect, victimizes every 1 in 4 million children. , (3). At the moment, there are twelve cases of Progeria in the US, and no more than one hundred have been reported around the world. While the child suffering from Progeria will appear to have no symptoms at birth, the tell tale signs of the fatal disease will begin to surface within a few months, (1). The common first symptom of a child who may be a Progerian is that the ends of their shoulder bones will be re-absorbed into their bodies. Soon, he or she will be underweight and undersize for his or her age. Hair loss and dental decay will follow. The disease slowly eliminates body fat. Eventually the

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

When glycogen cannot be completely broken down by the body, this is known as Von Gierka disease, or type I glycogen storage disease, this disease is an inherited disease. This happens when the body does not have the protein that releases glucose from the glycogen. This causes tissues to build up with glycogen, which ends up leading the body to low blood sugar.

The most common physical characteristic noticed about these individuals after birth is short stature. If it is not found at birth, a child will stick out around 5 years of age due to not growing as fast as their peers and become diagnosed with this condition. Other typical physical characteristics include swelling of hands and feet, delay in puberty and pterygium coli (skin folds along sides of the neck) (Doswell, Visootsak, Brady, & Graham, 2006). The hairline in the back of the head will be substantially lower. Also, the eyes will appear to be slanted downward and the ears rotated farther towards the back of the head. The lack of estrogen from the missing X can cause an array of skeletal deformities.

In 1886 Progeria disease was described by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford in England. Later they named the disease after the two doctors that discovered it, "Hutchinson-Gilford Progeria Syndrome". Many Doctors didn’t really try to research more into it since it’s a very rare disease that only affects one in four to eight million newborns. Many doctors didn't know about it and started to take more interest and trying to figure out what was Progeria and why it happens. It wasn’t until the 1900's that they actually started to do more research.

During the first years, as mentioned earlier, the weight will start to triple from the original birth weight. After the first year, because the child had almost doubled in height during the first 6 months, once the first year is completed, their growth rate will start to slow down. At the second year, the child will gain about 5 pounds and grow 4-5 inches. By the second year, the child will have about 90% of the size of the adult brain. As the child grows further, the body proportions start changing and they start developing muscle due to the increase in activity and starting slimming down.

The genetic mutation that I am doing is called Proteus Syndrome. Proteus Syndrome is a highly variable and is named after Greek-god Proteus who could change his shape. Only a few more than 200 cases have been confirmed worldwide with estimates that about 120 people are currently alive with the condition. Those most readily diagnosed are also the most severely disfigured bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is an overgrowth disorder caused by a rare genetic mosaicism.

Hutchinson-Gilford progeria syndrome is a genetic disorder that causes the appearance of young children to intensely and rapidly age and have illnesses that are typically associated with the elderly. Progeria is caused by a mutated gene called the LMNA and this gene produces a protein called lamin-a. Lamin-a is an important protein because it is what’s responsible for creating the shapes of the nucleus in cells. It’s also responsible for supporting the nuclear envelope, which is the membrane that surrounds the nucleus. Progeria is caused because of the creation of an abnormal version of the lamin-a protein.