What is Progeria Syndrome?
Progeria syndrome is a transmitted disorderliness which is progressive . It is also identified as Hutchinson - Gilford syndrome . It is a very rarefied , and gradually make headway genetic disorder . tyke with progeria syndrome get matured/ older rapidly within the first two years after their birth .
Generally , kid suffer from the progeria syndrome since their parentage . During the first year of the new-sprung , preindication and symptom , such as hair loss and slow growth starts to look .
Most of the children with progeria syndrome die because of stroke or heart disease . About 13 years is the median life computing of the child suffering from progeria syndrome , but some of children who are suffering from this genetic disorder die in younger eld , on the other script some of them live 20 years or longer .
Though , there is no cure for progeria syndrome which is a genetic disorder , but continuous research depict some hopeful treatment .
Facts behind Progeria Syndrome
How Common is Progeria Syndrome?
As per reports , progeria syndrome is not so common . About one new-sprung in four million newborns are affected by this disorderliness all around the man . This consideration was described first in 1886 . Since then , more than 130 cases of progeria syndrome have been recorded .
Is There a Cure for Progeria Syndrome?
When the first medical drug apply on those children who are experience rare speedy - aging disease showed successful solution with the drug Farnesyl Transferase Inhibitor ( FTI ) . This drug is apply to treat genus Cancer .
The medical trial event usher important improvements in the case of weight unit profit , bone social structure , cardiovascular system of rules . This info has collect from the research paper published in Proceedings of the Natural Academy of Sciences .
What is the Life Expectancy of a Child with Progeria Syndrome?
Strokes or kernel problems are the ultimate reasons of demise in most of the patient of progeria syndrome . The average life - span of these cases is about 13 years . In some case , the patients of progeria syndrome live twenty years or more and some also break down before 13 class of eld because of the disease .
Causes of Progeria Syndrome
It has been discovered by the researchers that progeria syndrome is caused for the mutation of a undivided factor . The gene is known as ( LMNA ) lamin A. It pee a protein which is necessary for harbour together the core group ( center ) of a cell . According to the researchers , the mutation of a faulty gene makes the cells unsteady and it leads to cognitive operation of Progeria ’s aging .
Progeria syndrome is not hereditary like other genetic mutations . investigator consider that if a single bollock or spermatozoon affect at the time of invention then the change of cistron occurs . Parents are not the carrier , even then the occurrent of the mutant in the child ’s gene and these raw case of mutations are known de novo .
Conditions which are Similar to Progeria Syndrome
There are some similar shape of progeria syndrome which persist in the members of the family . These transmissible syndrome are responsible for spring up old quickly and getting reduced life - clock time :
Signs and Symptoms of Progeria Syndrome
by and large , the growth during the first twelvemonth after the birth of the baby with progeria syndrome occurs very slowly , but the news and motor development continues to be normal .
The symptoms and sign of progeria syndrome contain unique forms :
Symptoms and sign of progeria syndrome are also related to health issues :
When is the Time to Contact a Doctor for Progeria Syndrome?
Take an fitting or call a Doctor of the Church when you are discover that your shaver is not developing or growing normally with the problem of decelerate growth , skin modification and hair release .
Complications of Progeria Syndrome
Generally , severe eccentric of hardening of the arteries acquire in those who are suffering from progeria syndrome . In this circumstance , the wall of the arteries become thicken and constrain . So , the stock can not fall in good order . Usually , the blood vessel carry oxygen and nutrients from the heart and supplies to the rest period of the body .
almost all kids with progeria syndrome fleet by because of the problems of consort to atherosclerosis . Such as :
In addition , another wellness problem which is ordinarily come to to ripening , for instance near sightedness , increase endangerment of Crab and arthritis do not produce as a part of the outgrowth of progeria syndrome .
Tests to Diagnose Progeria Syndrome
Physicians may guess progeria syndrome based on the symptoms and signs characteristic of this disorder . To verify the diagnosis , the doctor of your kid may suggest genetic examination for progeria syndrome . An LMNA mutation which is a hereditary test can be done to get confirm about the disease of progeria syndrome .
Consulting a Doctor for Progeria Syndrome
Generally , the case of progeria syndrome is identified in the early early childhood or in babyhood when a newborn evince first the distinctive symptom of premature ageing . These symptoms can be discover when the family doctor or the pediatrist of your small fry will point out these at the meter of regular wellness hindrance - up .
On the other hand , you may also notice the changes of your child which could be the symptom and signs of progeria syndrome , and then you may take a reference with the doc of your child . After the evaluation , your infant may be look up to a clinical genetics specialist . Below is some information that can help you in taking preparation for a meeting with a doctor .
Your duty before you go to the doctor for progeria syndrome :
Some basic questions which you may demand your doctor , if it detect as progeria syndrome :
Expectations from your MD for progeria syndrome :
Your physician will fulfil a through physical trial of your baby for progeria syndrome , such as :
Never hesitate to make questions , because progeria syndrome is a very rare disease . Actually , the doctor also may demand collect more information before taking decisiveness for the next dance step to take caution for progeria syndrome . Your concerns and questions can help your physicians to make a list of issues to examine .
At the time of comply - up visits , the height and weight of your nestling will be check and the measurement will be map on the chart of normal growing value . Other steady approximation , including visual sense , hearing , dental exams , and cardiogram may be suggested by the physician to get the proper result for any change .
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