Hutchinson-Gilford Progeria Syndrome

deep breathing. The pain has been progressively increasing in severity and she now has severe

In the beginning of the second year, and last half of the first year the children will stop growing and gaining weight which is accompanied by the hair loss. Between the ages of two and three year the classic facial feature of the Progeria begin to show (Hennekam, 2006 pp. 2603-2624).

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

They may start with a physical exam and listening to the patient’s heart. If an abnormal heartbeat is heard the doctor may recommend an electrocardiogram. This procedure monitors the electrical impulses of the heart to detect irregular heart beat. Chest X-rays may also be used to better evaluate the heart and lungs. There are also many other ways to detect defects such as an echocardiogram, exercise stress test, cardiac catheterization, CT scan, or MRI. Congenital heart disease can be minor or severe, so depending on the case there are many different treatment options. For minor cases medications and regular exams will do. For severe cases, implantable heart devices, catheter procedures, and even open-heart surgery may be needed. In rare cases a heart transplant may be required. Congenital heart disease can affect both children and

     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).

Inone of these steps, after prelamin A is made in the cytoplasm, an enzyme called farnesyl transferase attaches a farnesyl functional group to its carboxyl-terminus. The farnesylated prelamin A is then transported through a nuclear pore to the interior of the nucleus. The farnesyl group allows prelamin A to attach temporarily to the nuclear rim. Once the protein is attached, it is cleaved by a protease, thereby removing the farnesyl group along with a few adjacent amino acids. Failure to remove this farnesyl group permanently affixes the protein to the nuclear rim. After cleavage by the protease, prelamin A is referred to as lamin A. Lamin A, along with lamin B and lamin C, makes up the nuclear lamina, which provides structural support to the

Hi Roseann. Good Job. Your Unit 7 Initial Post is very informative. Her verbal report of fatigue, bilateral lower lobe crackles, skin is cool to touch, +2 edema in bilateral ankles, and heart rate of 112 are signs and symptoms of congestive heart failure. Her medical history of high blood pressure and coronary artery disease could also lead to heart failure. My focus would be is to teach her with CHF symptom management and to prevent exacerbation. To avoid hospitalization I would educate and give her a list of preventable measures such as avoiding salts, measuring her weight every morning, and fluid restrictions. I would advise S.P to notify her doctor with weight gain over 2 pounds. Medication compliance is also important in managing her

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 (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.

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

There are main ways of diagnosing this disease physically; early-onset and later-onset. In early-onset, doctors look for hypotonia - poor fetal movement, respiratory insufficiency; delayed motor milestones, scoliosis, congenital hip dislocation, high-arched palate, foot deformities and joint contractures, such as spondylocostal dysostosis. For later-onset, which is more rare, they look for mild symmetric myopathy, mildly affected facial muscles and occasional involvement of the extraocular muscles, (Quinlivan 3). With the early-onset diagnosis, physical therapy would benefit from the patients experiencing hypotonia, scoliosis and joint contractures. Respiratory support, breathing exercises and chest physiotherapy would be used for those with breathing problems caused from Malignant Hyperthermia. “Iannaccone also recommends consultations with a nutritionist to make sure patients are getting enough fluid, potassium and calcium, because a lack of any of these can contribute to cramping episodes,” (Wahl 3). Getting calcium back into your body is a major key while having this disease, as your body’s regular circulation of calcium is off. As of right now, there is no cure for Central Core Disease, only supportive and rehabilitation measures. “MDA’s current commitment to research in CCD, as of Jan. 25, 2010, is $1,156,989, spread over seven grants,” (Wahl 1). In the past six years, the research has grown and will

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

For babies these symptoms include weak muscles, slow motor development like taking longer than average to sit up, crawl and walk, delay in speaking, quiet, docile personality, problems at birth such as testicles that haven't descended into the scrotum. For boys and teenagers these symptoms are taller than average stature, longer legs and shorter torso with broader hips compared to other boys, absent or delayed and sometimes incomplete puberty, small and firm testicles, small penis, enlarged breast tissue (gynecomastia), weak bones, low energy levels, difficulty expressing feelings or socializing, problems with reading, writing, spelling or math, and attention problems. For men the symptoms of Klinefelter syndrome are infertility, small testicles and penis, taller than average stature, weak bones, decreased facial and body hair, enlarged breast tissue, decreased sex

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

It was not said if there is a prenatal test or not for this disorder, since it is so rare. The excessive hair though, is present at birth and the fetus would be covered with