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The disorder has very low incidences and occurs 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 (de novo), and is not inherited. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson-Gilford Progeria Syndrome.
Sign and symptoms
The earliest symptoms include failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent. Limited growth,alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristics of progeria. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. Later, the condition causes wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, hair loss, and cardiovascular problems. It is not transferred by the offspring.
A child with this condition show signs of symptoms usually around 18–24 months. After being born a healthy looking baby, their height and weight suddenly fall below average for their age. Individuals generally retain normal mental and motor development. There are many signs and symptoms of this progressive disease, and they tend to get worse as the child ages. The facial appearance is usually wrinkled, with a larger head in relation to their body, with a narrow face and a beak nose. The child experiences full-body alopecia. Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is also prevalent. Since they experience hair loss, prominent scalp veins are noticeable, as well as prominent eyes. Musculoskeletal degeneration causes loss of body fat and muscle, stiff joints, hip dislocations, and other symptoms generally absent in the non-elderly population.
Cause
Hutchinson-Gilford Progeria Syndrome (HGPS) is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene, replacing cytosine with thymine, creating a form of the Lamin A protein which cannot be processed properly and accumulates in the cell nucleus. Lamin A is a major structural protein of the human cell nucleus.
Before the late 20th century, research on progeria yielded very little information about the syndrome. In 2003, the cause of progeria was discovered. The LMNA gene is responsible for producing lamin proteins, which provide strength and stability in cells. Lamin A and Lamin C support the nuclear envelope. When Lamin A is altered, it affects the shape and the function of the nuclear envelope. These changes cause other cells to die prematurely.
Unlike "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome, or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Because these diseases display what are considered different aspects of aging, but never every aspect, they are often called "segmental progerias".
Diagnosis
Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test.
Treatment
No treatments have been proven effective. Most treatment focuses on reducing complications (such as cardiovascular disease) with heart bypass surgery or low-dose aspirin Children may also benefit from a high-calorie diet.
Growth hormone treatment has been attempted.
A type of anticancer drug, the farnesyltransferase inhibitors (FTIs), has been proposed, but their use has been mostly limited to animal models. A Phase II clinical trial using the FTILonafarnib began in May 2007.
source : wikipedia with edited
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