Progeria disease or a ‘Hutchinson-Gilford Progeria syndrome’ is a rare debilitating genetic disorder. It happens in one case out of eight million, so this is a really very rare disorder. It is characterized by the manifestation of aging signs in early years of a person.
Kids with progeria disease look like old men as the aging process is 8-10 times faster than normal. Apart from such a severe physical impact people affected with the condition tend to live very short lives – about 13 years in general. There are cases when they lived till the age of 20 or even 40 but these are exceptions.
Progeria disease was first described by Jonathan Hutchinson and also by Hastings Gilford. That is why it has got a double name. As it has been aforementioned, it is one of the rarest genetic disorders and there have been only about 100 of the cases identified.
The causes of progeria disease are still unclear even after all these years when it was discovered. However, there are some suppositions on the account. It is believed that progeria can be the result of Lamin A gene mutation when its component cytosine is replaced with thyamine. This reason cannot be said to be the surest one; however, so far this is the only existing and truth like explanation.
Progeria disease is a rare genetic disease but it is not considered to be inherited. It is believed that the mutation tends to occur during conception. There are other disorders that are also connected with aging; however, none of them are about defective DNA.
Progeria disease has got a very distinctive number of symptoms. They include scleroderma, decayed teeth or the lack of their formation, also alopecia, pinched nose and skin in wrinkles. A person usually is below the normal height and underweight. Besides, a person can experience the loss of muscle tissue and fats. Veins on the scalp start to appear. Hight-pithced voice can also be considered a symptom.
Generally, the kids with Progeria disease look absolutely normal when they are born but they start to develop very distinctive features very fast. It can be a fragile body and also the difference in the sizes of a face and jaw and the head.
The peculiar feature of progeria disease is that it affects a person’s physical appearance but at the same time does not affect mental growth and development of a person. It is also very characteristic for the children with progeria to look alike in terms of this condition – race and ethnicity does not make a difference here.
Progeria cannot be diagnosed by any means at the present moment. Modern medicine, however advanced, is unable to diagnose the condition; nor is it able to provide any treatment. It generally manifests itself fully up to the first year of living and only allows a person to live the very short term. The only cures are aimed to alleviate the accompanying conditions such as cardiovascular diseases.