Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare,

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.

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

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

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.

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

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 type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

Progeria takes more than a physical toll; however: the emotional impact for a child living with a rare and fatal disease can be terribly difficult and traumatic. Since children with Progeria have normal intelligence, most of them go to school like every other child. However, there can be a downside because these children have a far greater risk of being bullied. Additionally, these children are compelled to do physical activities somewhat differently. Since they are so petite and have fragile bones, it is hard for them to get involved in any sport. They also get tired very easily so they need to take constant breaks from strenuous activities. Even walking a short distance can cause harm to the body. Children with Progeria need to make sure to stay well-hydrated and have regular, minor physical activity (Diseases) that does not put them at risk for bone or cardiovascular injury. The emotional backlash

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

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.

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

The childhood development of the individual followed the normal development patterns that are expected. In the childhood stage the individual development changed rapidly and their ability to be active and learn new skills improves on a daily basis. During childhood a child will grow steadier compared to an infant. A child’s body and organs size grows at a steady pace. By the age of 6 a child’s head will be 90% of a full adult size even though the rest of a child’s body has a lot more to grow and to develop. Until a child reaches late childhood, and entering adolescence, an individual’s reproductive organs are still not fully developed. Infants and children can suffer from delayed development. This could cause potential effects

As stated before FAS is the leading cause of mental retardation. There may be mild to severe growth retardation including decreased birthweight and head circumference in addition to continued growth retardation for height, weight and head circumference. Children with FAS fail to ever catch up in growth during the preschool years and have a tendency to remain thin even though there is adequate nutrition. These children often have anomalies and deformed facial features such as short palpebral fissures, flat midface, thin upper lip, indistinct philtrum, epicanthal folds, low nasal bridge, minor ear anomalies, micrognathia, strabismus, ptosis of the upper eyelid, narrow receding forehead, and a short upturned nose (Hess and Kenner 2). In broader terms the face of a FAS child includes a small head; a small maxilla which is the upper jaw; short, upturned nose; smooth philtrum which is a groove in the upper lip; smooth and thin upper lip; and small slightly narrow eyes with noticeable epicanthal folds (http://www.adam.com/ency/article/0009111.sym.htm). In the American Journal of Public Health and article called Tobacco and alcohol use during pregnancy and risk of oral clefts, described a study conducted to examine the relationship between alcohol consumption during the first trimester of pregnancy and oral clefts (Lorente, Cordier, Goujard and Ayme 1). First of all during the 6th through

The Gene: Lamin A (LMNA), makes a protein that is required for holding the centre of the nucleus together. When it has been mutated (defect), an abnormal amount of the Lamin A protein called Progerin is produced and makes the cell unstable, this is what influences the diseases aging process.

Progeria, or Hutchinson-Gilford progeria syndrome, was founded by Jonathan Hutchinson and Hastings Guilford in England in 1886. Progeria is a rare genetic disorder that is found in children who show a rapid growth in age (Sarkar & Shinton, 2001). At first, the child may seem normal at birth, but in the beginning of the first two years the child will start to show a rapid increase of the symptoms of progeria. The main cause for progeria is heart stroke or problems. A child with progeria can live up to 13 years; however some die younger and others die after 20 years-old or longer. Progeria has many symptoms that are shown in a child’s first year of life such as hair loss; slow growth in height and weight; bone changes; and thinning, spotty, wrinkled spots. Progeria shares some similarities and differences between the normal process of aging (Mayo Clinic, 2014). In progeria, we tend to see wrinkles develop