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.[12] A Phase II clinical trial using the FTI Lonafarnib began in May 2007.
Prognosis
There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke.
Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop "wear and tear" conditions commonly associated with aging, like cataracts and osteoarthritis.
Epidemiology
A study from the Netherlands has shown an incidence of 1 in 4 million births. Currently, there are between 35 and 45 known cases in the world. Approximately 100 cases have been formally identified in medical history.
Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves.
There has been one case in which it became evident that a healthy parent can carry the LMNA mutation that causes progeria. In this case, a family from India had five children with progeria. They were the subject of a 2005 Bodyshock documentary entitled "The 80 Year Old Children".
Wednesday, July 22, 2009
Symptoms
The earliest symptoms include failure to thrive and a localized scleroderma-like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristic of progeria. The people diagnosed with this disease usually have small, fragile bodies, like those of elderly people. Later, the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems.
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 an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope.
Unlike most other "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome, or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Because these "accelerated aging" diseases display 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
The earliest symptoms include failure to thrive and a localized scleroderma-like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristic of progeria. The people diagnosed with this disease usually have small, fragile bodies, like those of elderly people. Later, the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems.
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 an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope.
Unlike most other "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome, or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Because these "accelerated aging" diseases display 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
Progeria Disease
Progeria (also known as "Hutchinson–Gilford progeria syndrome" and "Hutchinson–Gilford syndrome") is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. About 1 in 8 million babies are born with this condition, and most affected children have a life span of around 13 years, although many have been known to live into their late teens and early twenties. It is a genetic condition but occurs as a new mutation (sporadically) and is not usually inherited, although there is one unique form of the condition identified in only one family in the world that is inherited from parents who carry the protein genetically. In this case, five children in the family had the condition. This is in contrast to another rare but similar premature aging syndrome, dyskeratosis congenita (DKC), which is inheritable and will often be expressed multiple times in a family line.
Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging. Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson-Gilford Progeria syndrome (HGPS).
Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging. Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson-Gilford Progeria syndrome (HGPS).
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