Progeria Definition, Reason, Symptoms, Treatment & Prevention
Definition
Progeria is a genetic disorder that causes premature aging. This disease is often called Benjamin Button disease because the symptoms are similar to the famous fictional story entitled The Curious Case of Benjamin Button.
Progeria disease is classified as a rare or rare disease. It is estimated that one in four million babies is born with this condition. Babies who suffer from this disorder only have a life expectancy of up to 13 years or not too long. However, in some cases, infants with progeria were found who were able to survive to the age of more than 20 years.
There are three types of progeria, namely:
- Hutchinson-Gilford progeria ( Hutchinson-Gilford Progeria Syndrome / HGPS), is the most common type of progeria.
- Werner’s progeria, is a type of progeria that is more commonly found in adolescents.
- Progeria Wiedemann-Rautenstrauch, which usually occurs when the baby is still in the womb.
Because it is a genetic disorder, progeria has been suffered since childhood. Children who experience this disease generally remain healthy. However, at the age of two, the appearance of children with progeria looks like their parents.
Although related to genetic disorders, progeria is not a hereditary disease. This disease is also not contagious and can attack anyone.
Symptom
Symptoms of progeria have not appeared in newborns. Generally, new symptoms begin to appear within a few months after birth or when the baby is 10-24 months old. Some of the signs that can be seen in babies with progeria are generally in the form of:
- Stunted growth
- Babies look thin, small, and weak
- Hair loss, as well as eyelashes and eyebrows
- Wrinkled skin, and freckles appear, and thinning
- There is stiffness of the joints
- Disproportionate head and body (head looks big)
- Delayed and abnormal tooth growth
- The sound is high-pitched or loud
- The eyeballs bulge out and the eyelids cannot close completely
Progeria can also cause blood vessel blockage. As a result, sufferers of progeria are prone to stroke and heart disease. Other diseases that are commonly experienced by people aged 50 years can also be experienced by babies with progeria.
Reason
Progeria is a genetic disorder. The exact cause of progeria is not known until now. However, most children who suffer from this disorder have mutations in the gene that produces lamin A (LNMA).
Lamin A is a type of protein that functions to maintain cell life in the body. This protein disorder causes cells in the body to die faster, resulting in premature aging.
Diagnosis
In the process of establishing a progeria diagnosis, the doctor will conduct a detailed medical interview to confirm the symptoms and signs that appear. In addition, a physical examination will also be carried out, such as an examination of abnormal head size, wrinkles on the skin, and so on.
If the doctor suspects that a baby or child has progeria, the doctor will recommend having a genetic examination to see if there is a genetic mutation.
Treatment
Progeria cannot be completely cured because it is related to genetic disorders. The therapy that is usually given to people with progeria is physiotherapy to prevent joint stiffness that is commonly experienced.
Heart disease drugs such as nitrates and statins can be consumed because people with progeria are prone to heart disease. In addition, growth hormone can also be given to inhibit the abnormal production of lamin A protein. This hormone can also help increase the weight and height of children with progeria.
Other treatments that can also be given are administration of cholesterol drugs and anticoagulants. The goal is to lower cholesterol levels and prevent blood clots in people with progeria.
Even with treatment, most people with progeria only survive to the age of 13. In some cases, babies with progeria can live to be more than 20 years old.
Prevention
Until now there is no action that can be done to prevent progeria from occurring.