Progeria or Hutchinson-Gilford syndrome is one of the rarest and progressive genetic disorders that lead to rapid ageing of children usually starting in their first two years. Children with Progeria usually look normal at the time of birth. In the first year of their life symptoms such as hair loss, slow growth of the body, starts showing up. The eventual reason for death is a stroke or other heart problems. Till now there is not any permanent treatment for progeria, but a lot of work is being done with high hopes of a permanent cure.
Symptoms
- In the first year of life there is slow growth of the child, however motor and intelligence development is usually unaffected.
- A different appearance with very low weight and height, thin lips, narrowing down of the face and smaller lower jaw.
- Beaked nose, disproportionate head that looks too large for the face.
- Thinning and wrinkling of the skin with visible veins. The skin can also get tight. There is also a loss of fat beneath the skin and the muscle mass also reduces.
- High pitched voice and hearing disorders.
- Delicate and fragile bones and stiff joints with hip dislocation.
- Resistance towards insulin.
- Abnormal tooth formation.
- Serious heart and blood vessel disease.
Diagnosis
It is not difficult to diagnose this rare disease since the symptoms are very prominent. The doctors usually go for a physical check up of hearing and vision. They also measure the pulse and blood pressure, the height and weight and also compare it to the normal average. However a specialist in medical genetics confirms the disorder with the help of a blood test.
Causes
According to the researchers, a single gene mutation is responsible for Progeria which is known as lamin A. It is required to make the necessary proteins to hold the center or the nucleus of a cell together. Any defect in the gene leads to genetic mutation making the cells unstable. However, unlike other genetic mutations, this one is not passed down in family. The parents are also not the carrier, therefore the mutation is new in the child.
Progeria complications
In Progeria, there is serious hardening of the arteries and the walls of the arteries. The blood vessels start thickening and restrict the blood flow as well as the flow of nutrients and oxygen from the heart to the body making it fatal. Most of the children die due to atherosclerosis, heart attack and stroke because of cerebrovascular and cardiovascular problems. Problems such as cancer, arthritis, and nearsightedness are also a part of the course of progeria.
Treatment
- There is no cure as of now for progeria, but research is being done and there are hopes from a cancer drug called farnesyltransferase inhibitors that might work on the damaged cells.
- Drugs are often prescribed to reduce the level of cholesterol and prevent blood clots. A small amount of aspirin is taken every day to save from heart attacks and stroke.
- Growth hormones are also taken to aid height and weight.
- For dealing with the stiffness in joints or hips a Physical and occupational therapy can help.
- Surgical intervention such as angioplasty and bypass might also be required in case of severe heart problems.
- Due to dehydration there is constant sickness and therefore it is essential to have plenty of water, especially in summers. It is also important to eat enough and small meals can be more helpful in this case.
- For physical activeness cushioned shoes can be used.
Progeria Life expectancy
Average life expectancy is between 13 to 20 years in Progeria. Most of the children die because of heart problems or stroke. In Hutchinson – Gilford syndrome the average life expectancy is 13 years and 75% of deaths are due to heart problems. On the other hand in Werner Syndrome the life expectancy is from 30 to 50 years and deaths can occur due to atherosclerosis and cancer as well. However the average life for Progeria patients is 13 years.
There is no negative effect on the mental growth and the intelligence is also between normal to above average. Since aging is the most prominent factor and symptom of Progeria it manifest at a rate eight to ten times faster than normal average aging rate. Apart from the features of aging the patients exhibit noneurodegeneration or cancer predisposition. The typical “wear and tear” symptoms commonly associated with aging is also not there. For Progeria, there is no successful treatment but the problems that come with it such as arthritic, respiratory, and cardiovascular problems can be treated in time.
