Progeria – What it is, Causes, Symptoms and Treatments of this disorder. In addition, Progeria is a rare genetic disease that has no cure yet. The word Progeria is derived from the Greek and means something like old age. The first scholar to describe the disease was Jonathan Hutchinson in the year 1886.
It was Hastings Gilford, however, who contributed most to her information. For this reason the Progeria is also called syndrome of Hutchinson-Gilford.
The anomaly affects an extremely low number of children. Through it the aging process acquires a speed up to 7 times higher than normal. Due to this circumstance life expectancy does not usually exceed 14 years of age in girls and 16 in boys.
What is Progeria?
The Progeria is a genetic disease, progressive and incurable, characterized in premature and accelerated aging of the wearer, which is about 7 times faster than usual.
The name Progeria is given by the union of two Greek suffixes “pro”, which means precocious and “gēras”, which means aged, thus forming precocious aged.
Affecting 1 in 4 to 8 million births worldwide, this disease was first identified by Jonathan Hutchinson in 1886 when describing the case of a child with congenital (since birth) absence of hair .
Causes of Progeria:
The Progeria , as other genetic diseases, it is simply an accident happens in one or more genes, nothing that can be prevented.
The Progeria is caused by a mutation in the LMNA gene. This gene gives instructions for the production of the protein called Lamin A. This protein plays an important role in the shape of the nucleus within cells. It is an essential supporting component for the nuclear envelope, which is the membrane surrounding the nucleus.
Mutations that cause Progeria result in the production of an abnormal version of protein A, which once altered causes the nuclear envelope to become unstable and causes progressive damage to the nucleus, causing cells to die prematurely.
The characteristics of a child with Progeria are quite remarkable and easily recognizable. These are signs that tend to appear between the first year of life and the second. The symptoms of children with this disorder are often very similar to the symptoms older people experience, such as:
- Joint stiffness;
- Hip dislocations;
- Severe and progressive cardiovascular disease
- Weakened body structure;
- Irregular dentition.
To identify whether or not a child has this disorder , a genetic test for Hutchinson-Gilford syndrome , also called HGPS, is currently available. The test is a major breakthrough for the area, as previously the diagnosis could only be made by physical symptoms such as skin changes and weightlessness , which was a major problem as these symptoms could not be identified. until two years old.
In addition to helping to treat the disease faster, the HGPS test helps to reassure the parents of the affected children, since the disorder caused by Progeria originates in a sporadic genetic mutation, ie it is not because one of the children was born with the condition that the others will also have the same syndrome .
There is no specific treatment for Progeria , so the doctor suggests some treatments according to the problems that arise. Among the most widely used forms of treatment are:
Daily Use of Aspirin: allows to keep the blood thinner, avoiding the formation of clots that can cause heart attacks or strokes ;
Physiotherapy sessions: help relievejoint inflammation and strengthen muscles , preventing easy fractures;
Surgeries: They are used to treat or prevent serious problems, especially in the heart.
In addition, your doctor may also prescribe other medicines for you, such as cholesterol-lowering statins, or growth hormones if your child is very underweight , for example. A new form of treatment is being tested to try to delay cell aging by controlling how the cell uses energy.