Saturday 22 June 2013

PROGERIA


You think only old people get old? Even kids get old too!




Progeria is an extremely rare, fatal, genetic condition that affects children, giving them an appearance of accelerated aging. The word “Progeria” comes from the Greek word “progeros” which means “prematurely old”

There are different forms of progeria, but the most classic type is Hutchinson-Gilford Progeria Syndrome (HGPS). It was first described by Dr Jonathan Hutchinson in 1886 and Dr Hastings Gilford in 1897

Progeria is caused by a single gene mutation. This gene is known as lamina (LMNA). It makes a protein necessary for holding the nucleus of the cell together. This defect then makes the nucleus unstable which then resulting in progeria

This condition CAN NOT BE INHERITED. It happens purely by chance. This disease is very very rare, and there are about only 53 kids suffering from it worldwide. Both male and female children from all races run an equal risk of having progeria

Children with progeria are born looking healthy. But within the first year of life, the growth of the child slows markedly so that height and weight is not normal for his/her age. Then when they are about 10-24months , they begin to show symptoms of accelerated aging. A 10 year-old progeria child will look like an 80 year-old, but his mind is still that of a 10 year-old




Signs/Symptoms of progeria are·        Growth failure
·        Narrow, shrunken or wrinkled face with beaked nose
·        Alopecia (hair loss, including eyelashes, and eye brows)
·        Macrocephaly (large head for size of face)
·        Small jaw(micrognathia)
·        Dry scaly, thin skin
·        Lack of or decayed teeth
·        Thin lips
·        Large eyes
·        Visible veins
·        Deep voice
·        Diminished body fat and muscle
·        Stiff joints
·        Hip dislocation
·        Insulin resistance
·        Irregular heartbeat and heart diseases

Children with progeria commonly suffer from ailments associated with aging such as hypertension, angina pectoris (chest pain), stroke, enlarged heart and heart failure. These ailments are what eventually kill these children even before they get to adolescence.

Regrettably, there is currently no cure for progeria patients. Other types of progeria or progeroid syndrome are·        Wiedemann-Rautenstrauch syndrome (Neonatal progeroid syndrome)
·        Werner syndrome (Adult progeria)
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