What is Progeria?
Progeria is a genetic disorder in which symptoms resembling aging gets manifested in the person at a very young age. Persons affected by this disorder generally do not live beyond their early twenties.
The condition of progeria was first described by Jonathan Hutchinson and later by Hastings Gilford. Based on the names of these early scientists this syndrome was named Hutchinson Gilford progeria.
HGPS (Hutchinson-Gilford Progeria Syndrome)
There are other forms of progeria but the dominant one is HGPS (Hutchinson-Gilford Progeria Syndrome). For example, Werner’s syndrome relate to adult progeria which sets on in the late teens and persons affected by it may live up to 40 to 50 years of age. This is a rare genetic condition causing premature aging of the person affected by the syndrome (1).
The very fact that so far only a little over a hundred children have been found to be affected by this syndrome in about fifty countries put together confirms the rarity. The progeria gene was discovered recently (as late as in the year 2003) and the chances of further discovery on remedial measures may not be far away.
It is not an inherited disease and is not of family origin. Even if one child in the family is affected by the syndrome there is no danger that other children of the family may also be affected. It is only person specific and not family specific (2).
Progerin is the single abnormal protein responsible for development of progeria. When cells use this particular type of protein they breakdown easily and speed up the aging process in the child.
Symptoms of progeria is noticeable within the first few months of the child. The symptoms develop as the child grows and become more evident when it is grown up to about one and a half to two years of age. Progeria affected children quickly lose the full body hair and their facial appearance changes distinctively with shallow recessed jaw, smaller face and a pinched nose. Wrinkle on the skin becomes visible in such children. Likewise the child develops most of the symptoms of progeria one by one.
A clinical test must be conducted to confirm the syndrome as some of the symptoms of the disorders are similar to some other syndromes too. For example skeletal malformations may be due to other syndrome called Hallermann-Streiff syndrome (3).
Effects of Progeria Syndrome
- Other medical conditions like atherosclerosis (atherosclerosis is a dangerous disease where the build-up of plaques narrows down the arteries), poor eye sight and eventual loss of vision, failure of the kidneys and heart related issues surface as it progresses (4).
- Steadily but quickly the body turns fragile as if it is an elderly person. The head look larger inconsistent with the size of the body. Besides the pinched nose the eyes become exceptionally large and prominent.
- Muscles and skeletons are weakened by losing fat, joints turn stiff and the hips get dislocated. But with all these adverse changes, the mental ability of the child do not deteriorate.
- Children affected by progeria by and large die of issues relating to atherosclerosis.
When arteries are narrowed down they cause coronary artery disease, problems related to the kidneys, paralytic strokes and peripheral artery disease all of which life are threatening. The worse part of it is that symptoms of atherosclerosis do not surface in the early stages of progeria. Most of the deaths due to progeria are due to encountering cardiovascular and cerebrovascular problems.
Treatment and cure
While the disease cannot be cured, its symptoms can be managed so as to prolong the life of the person affected by one or two years. Progeria syndrome is easily diagnosed by people around or by a doctor as it is evident in the infant stage itself in view of the visible symptoms. But a genetic test may be conducted to find our whether one of the parents had it (5).
Even though no cure is available it is important to ensure that the child or young one lives comfortably and able to manage the disabilities and move around.
- It is suggested that the child is made to adopt healthy food habits and do small exercises to ensure continuous movement of the joints.
- Consumption of more calories at regular intervals can also enhance the strength of the body.
- Oral hydration to maintain the fluid level and to avoid dehydration is important.
- Routine therapy can also help to some extent in addition to protecting the body from sun.
- In view of inadequate body fat, shoe pad may be used to make the foot comfortable.
- Where congestive heart failure is anticipated, routine anti congestive therapy may be undertaken.
- Taking medicines as per doctor prescription is also necessary to protect the heart and cardiovascular system in general from rapid deterioration.