Department of General Medicine
Progeria is also termed as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition.Progeria affects the children with striking features resembling premature aging Its name is derived from the Greek and means 'prematurely old'. It was first described first described in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford.
At present there are 74 cases of Progeria around the world. It affects approximately 1 in 4 - 8 million newborns and both girls and boys run an equal risk of having Progeria. There are an estimated 200-250 children living with this disease worldwide at any one time. It affects both sexes equally and all races.
Progeria is caused by the mutation in gene called LMNA (pronounced “lamin-a”). The LMNA gene produces the lamin A protein which is the structural scaffolding that clasp the nucleus of a cell together. The abnormal lamin A protein causes Progeria is called progerin, that makes the nucleus unstable. This cellular instability leads to the process of premature aging and disease in Progeria.
We all make a little bit of progerin, the disease-causing protein in Progeria. Which builds up over a lifetime and may be partly responsible for the aspects of aging. Progerin is also linked to telomere dysfunction. Telomeres are proteins that have a major role in cellular aging.
It is not seen in siblings of affected children. In rare cases more than one child in the same family may have this condition.
Signs and symptoms
Most kids with this progeria look healthy when they're born, but they start to show signs of the disease during their first year. Signs of Progeria may include:
Severe, progressive atherosclerosis with widely variable age of clinical manifestation resulting in myocardial infarction and stroke.
Progeria doesnot affect a child's intelligence or brain development . A child with the condition isn't any more likely to get infections than other kids.
Progeria is usually diagnosed during the second year of life or later, when progeroid signs begin to be noticeable.Making a diagnosis of progeria includes taking a personal and family history, including symptoms, such as poor growth and weight gain, and complete a physical examination.
There is no specific diagnostic test to check for progeria. Diagnosis is made on the basis of symptoms, such as failure to thrive and Hair loss by age two.
There are currently no treatments for the cure of progeria, but regular monitoring for heart and blood vessel (cardiovascular) disease may help with managing your child's condition.
Farnesyltransferase inhibitors (FTIs),originally developed to treat cancer, was shown to be effective for progeria. Treatments usually help ease or delay some of the disease's symptoms.
Physical and Occupational therapy can also help to maintain the physical activity and an active lifestyle. The use of hydrotherapy may be effective in improving joint mobility and lowering the symptoms of arthritis.
There are also formal healthcare recommendations on Nutrition,Cardiac care and Occupational Therapy or Physical Therapy through The Progeria Research Foundation.
Progeria 101/FAQ ; from Progeria Research Foundation.
Progeria: Causes, Symptoms and Treatments; Medicalnewstoday; by Christian Nordqvist.
Progeria ; WebMed.
Progeria; from Wikipedia,the free encyclopedia.
Progeria –A Brief Review; International Journal of Pharma and Bio Sciences P.Shankar, P.Vishwanath , D. Vijay Nath , Naveen Chella, Y. Kiran Kumar And P.Venkateshwarlu.
Progeria ;from MyoClinic.
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