It is a rare progressive genetic disorder, which causes a rapid aging in children. Individuals suffering from Progeria (Hutchinson-Gilford Progeria Syndrome ) are born healthy, without any visible symptoms at all, but symptoms appear in first year of birth.
A slow growth accompanied by other visible symptoms appears. Progeria is basically caused by mutation in the LMNA gene. It responds with the formation of an abnormal protein called progerin. Cells in the body use this protein which makes them to breakdown easily and aging process is accelerated.
At an early age, the individuals suffering from progeria starts encountering with the diseases, which are common among the people above 50. Complications like heart disease and brain stroke are the common causes of death among the population suffering from the disease. The average life expectancy is approximately 14.6 years but, with proper medical support some of them can live up to 20 years.
Motor skills, like standing, sitting, walking and intellectual developments are not affected.
Symptoms of progeria (Hutchinson-Gilford Progeria Syndrome )
- Slow growth, poor weight and height growth is noted.
- Larger head as compared to face.
- Hair loss, even from eyebrows.
- Visible veins, especially on scalp.
- Thin, spotty and wrinkled skin.
- Skeletal abnormalities like thin, fragile bones and a widened rib cage.
- High pitched voice.
- A pointed or beaked nose.
- Slow progression of puberty.
- Insulin Resistance.
Risk factors (Hutchinson-Gilford Progeria Syndrome )
A single gene variant or gene mutation causes progeria (Hutchinson-Gilford Progeria Syndrome ). The variant affects the LMNA genes, which is responsible for making Lamine A protein, which provides structural support to the nucleus. The gene mutation causes disturbance as a new protein is abnormally formed instead of Lamine A, which is called progerin. Progerin make some abnormal changes in the structure of the nucleus and make it prone to damage over time.
Is it inherited from parents?
Progeria is a result of de novo variant. De novo variant may be understood as a genetic change which is not inherited from either of the parent. It basically come into picture during the formation of sperm cell, egg cell or during the early stage of embryo development. Although progeria is not inherited from either of the parents, if they have one child with progeria, there is still a 2% to 3% chance of next baby being affected by progeria.
Diagnosis of progeria (Hutchinson-Gilford Progeria Syndrome )
Based on the symptoms, the healthcare provider may suspect and spot it during routine checkup.
For further clarification a genetic test may confirm changes in LMNA gene, and the diagnosis can be confirmed.
Treatment of progeria (Hutchinson-Gilford Progeria Syndrome )
There is no cure for progeria but continuous efforts are being made by researchers to get closer to the cure. The target approach is finding the proper therapies to correct the gene variant responsible for progeria, the other approach is looking for the ways to reduce the amount of progerin.
As a subject suffering from progeria may develop health threats such as cardiovascular disease and brain stroke. The treatment plan of these individuals includes.
Cholesterol lowering medications, such as statins
For the prevention of heart attack and stroke, aspirin may be recommended.
Living with progeria (Hutchinson-Gilford Progeria Syndrome )
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder that accelerates aging in children. It affects about one in 20 million births and causes symptoms including hair loss, joint stiffness and heart disease. Children with progeria are known for exuding exuberance despite their life expectancy not surpassing 15 years. There is not yet a cure, but ongoing research offers hope for treatments that could lengthen life expectancy. Highlighting these issues can help both families in need and medical advancement.
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