Progeria – What it is, Symptoms and Treatment that everyone should be aware of. In addition, Progeria , also called Hutchinson-Gilford syndrome, is an extremely rare childhood disease, in which the patient undergoes an exacerbated aging process, around seven times the normal rate. So, check out all about Progeria – What it is, Symptoms and Treatment:
What is Progeria: It is a rare genetic disease that does not yet have a cure. The word Progeria derives from the Greek and means something like old age. The first scholar to describe the disease was Jonathan Hutchinson, in 1886. It was Hastings Gilford, however, who contributed the most to more information about it. For this reason Progeria is also called Hutchinson-Gilford Syndrome.
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Symptoms of Progeria: These usually appear during the second year of life. Most babies with Progeria are born apparently normal. Both the child’s intellectual development and their motor skills are not compromised and they can attend school normally. The immune system also remains in perfect condition.
Despite this, the child may suffer different types of prejudice, since characteristics such as those mentioned above are frequent and very remarkable. It is common for these little ones to suffer from diseases of older people such as cataracts, Alzheimer’s disease, senile disorders and all other complications brought about by age. Atherosclerosis, an inflammatory disease that affects blood vessels, is a leading cause of death in children with Progeria .
Diagnosis of Progeria: Basically by clinical analysis and observation of symptoms, as there is no specific test that confirms the hypothesis of Progeria . The characteristics of a child with the disorder are quite noticeable and easily recognizable. These are signs that tend to appear between the first year of life and the second.
The most frequent sign is the excretion of hyaluronic acid in large amounts in the urine. Some tests such as x-rays can help check for these signs. The most characteristic are:
- abnormal voice
- very thin nails
- late puberty
- little hair or none
- Few teeth and late eruption
- Dry, thin and wrinkled skin
- Absent or abnormal clavicle.
Treatments for Progeria: There is no definitively concrete treatment for this disease. On the other hand, there are a number of experimental treatments. Various medications are given to these children in order to reduce the effects and minimize the disorders brought on by old age. Vitamins, calcium, antioxidants, fatty acids and nitroglycerin, for example, are some of the substances that Progeria patients should ingest.
Many studies have been carried out in order to find the solution to this disease. One theory studies the possibility of inserting the gene that makes the synthesis of the progerin protein while what already exists in the organism is blocked by a vector, so that it stops acting. Another hypothesis studied would be the injection of a drug that stimulates the production of telomerase, an enzyme that adds DNA sequences.
With the discovery of the LMNA gene mutation, a big step has already been taken. Once a possible cause has been found, it becomes easier to study a cure. In the meantime, what can be done is to treat the symptoms correctly so that the life expectancy is as long as possible, despite the fact that it hardly exceeds 16 years of age. Be sure to take your child to the doctor if you have any symptoms. It could be something much more complex than you might think.