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Tuesday, July 13, 2010

Progeria






Progeria is a disease that produces rapid aging, beginning in childhood.
Alternative Names
Hutchinson-Gilford syndrome

Incidence of Progeria

progeria


# According to Hayley's Progeria Page, only about 1 in every 8 million children has Progeria. The Progeria Research Foundation claims only 54 cases have been reported worldwide, but suspects up to 150 more undocumented cases exist.
Age of Onset of Symptoms
# Newborns with Progeria usually present as normal babies. Symptoms usually do not manifest until about 9 to 24 months of age.

progeria




Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children.
Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is only very rarely seen in more than one child in a family.
Symptoms
* Growth failure during the first year of life
* Narrow, shrunken or wrinkled face
* Baldness
* Loss of eyebrows and eyelashes
* Short stature
* Large head for size of face (macrocephaly)
* Open soft spot (fontanelle)
* Small jaw (micrognathia)
* Dry, scaly, thin skin
* Limited range of motion
* Teeth – delayed or absent formation
About 97% of the children affected are Caucasian, but all children with Hutchinson-Gilford progeria have a similar appearance, regardless of racial/ethnic background. Children with the syndrome survive to an average age of 13 years old, with most succumbing to heart disease.


Werner Syndrome
Werner syndrome is a less well-known but more common form of progeria, occurring in about 1 in 1 million individuals. Typically, Werner syndrome is identified when an adolescent fails to have a normal growth spurt. Over time, the young person begins to look elderly. Some of the characteristic symptoms are:
* Striking difference between the person's appearance and his/her real age
* Head and face: gray hair and/or balding, wrinkling of the face, cataracts, sunken cheeks and small jaw, a high-pitched voice
* Bones: osteoporosis, small stature, muscle weakness
* Diabetes and cancer common
Werner syndrome appears to occur more often in people of Japanese and Sardinian heritage. People with Werner syndrome survive to an average age of 46 years old, with most succumbing to heart disease or cancer.
Causes
In 1992, researchers pegged Chromosome 8 as being the locus of Werner syndrome; in 2003 the responsible gene was identified. Researchers hope that they will be able to discover what roles this gene plays in the body and thereby figure out the mechanisms behind the syndrome.
The gene responsible for Hutchinson-Gilford syndrome has not been identified, so researchers do not have a grasp yet of what causes the syndrome. They suspect a gene defect (mutation) occurs accidentally in a human embryo, and the child then develops progeria.
May not be premature aging

In both syndromes, research suggests that although the affected person may look like he or she is growing old prematurely, there are a number of conditions that develop that are very different from those of elderly people. For example, people with Werner syndrome develop osteoporosis, as in aging, but their form of the bone disease is unusually severe in the long bones of the legs. Yet researchers are hopeful that both syndromes will give some clues about the genetic factors involved in the aging process.
Complications:
Children with progeria usually develop severe atherosclerosis. This is a condition in which the walls of their arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.
Most children with progeria die of complications related to atherosclerosis, including:
* Problems with the blood vessels that supply the heart (cardiovascular problems), resulting in heart attack and congestive heart failure
* Problems with the blood vessels that supply the brain (cerebrovascular problems), resulting in stroke
Less common signs of aging that may affect a child with progeria include:
* Cataracts
* Tumors
* Insulin resistance
Other health problems that are frequently associated with aging — such as near-sightedness, osteoarthritis and Alzheimer's disease — do not develop as part of the course of progeria.
Diagnosis And Tests:
No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, that typically aren't fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it's possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.
Treatment and drugs:
There's no cure for progeria. Regular monitoring for cardiovascular disease may help with managing your child's condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease.
Certain therapies may ease some of the signs and symptoms. They include:
* Low-dose aspirin. A daily dose may help prevent heart attacks and stroke.
* Physical and occupational therapy. These may help with joint stiffness and hip problems, and may allow your child to remain active.
* High-calorie dietary supplements. Including extra calories in your child's daily diet may help prevent weight loss and ensure adequate nutrition.
* Feeding tube. Infants who feed poorly may benefit from a feeding tube and a syringe. You can use the syringe to push pumped breast milk or formula through the tube to make it easier for your child to feed.
* Extraction of primary teeth. Your child's permanent teeth may start coming in before his or her baby teeth fall out. Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in.
Drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, have shown promise in laboratory studies in correcting the cell defects that cause progeria. FTIs are currently being studied in human clinical trials for treatment of progeria.
A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn't diagnostic by itself, but may lend support to a diagnosis of progeria.



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