Progeria is an extremely rare, incurable genetic disorder that conduces to premature aging in children. Children born with this condition age 8 times faster than the normal rate. About 1 in 18 million babies are born with this disorder, with around 30-40 known cases of progeria across the globe.
First described by Jonathan Hutchinson in 1886, and then later described independently by Hastings Gilford in 1897, this genetic disorder is also known as Hutchinson-Gilford Progeria Syndrome (HGPS). The name progeria comes from the Greek word that means 'prematurely old'.
A family can have more than one child with this condition. An Indian family has reported to have seven children, of which five are affected with progeria. Three of those children are dead, passing away at the ages of 13, 17, and 24. However, this condition is primarily caused by a genetic mutation, and unlike other genetic disorders is not transferred from parent to child. This is because children with progeria have a life span of not more than 12-13 years, thus, not living long enough to reproduce.
What Causes Progeria?
Progeria is caused by the mutation of a single gene and occurs when a joint mutation occurs in position 1824 of the LMNA gene, wherein the component of DNA called cystosine is replaced by another pyrimidine base, thyamine. Lamin A plays an important role in building the nuclear envelope, thus, when a mutation occurs in this gene, a mutant form of Lamin A protein is produced, which destabilizes the person's cells in the body, thereby causing progeria.
Symptoms of Progeria
At birth a child born with progeria will not exhibit any symptoms. However, within the first one year, the baby will appear shorter, lighter, and smaller. One of the earliest symptoms are changes in the skin such as thickening and tightening of skin, as in the case of scleroderma. Growth failure is seen in the first year of the child's life. The other symptoms of progeria are as follows:
- Pinched nose
- Small, wrinkled face
- Head large for the size of the face
- Loss of eyebrows and eyelashes
- Prominent scalp veins
- Delayed tooth formation
- Loss of muscles and body fat
- Bulging eyes
- Wrinkled, scaly, dry skin
- High pitched voice
- Short stature
- Stiffness in the joints
- Progressive cardiovascular disease
- Progressive atherosclerosis
Besides these symptoms, people with progeria also experience all the other symptoms associated with the typical aging process. These children stop growing completely around the age of 3. However, despite the difference in appearance, children with progeria are not mentally challenged. These children are young minds in aging bodies. Their mental developments take place like that in other children their age and possess normal intelligence levels.
Progeria can be confirmed by DNA testing. Sadly, no treatment for this condition has been found as yet. People with progeria are treated to reduce complications resulting from different illnesses arising in their bodies. For example, a progressive cardiovascular disease is treated, bypass surgeries are carried out, etc., so as to prolong the child's life.
However, there is no way to cure this genetic disorder. Progeria-affected children live mostly up to the age of 13, however, there are some who have lived into their 20s and 30s. Intake of a high-calorie diet may help prolong their lifespan. Moreover, gentle physiotherapy helps reduce the stiffness in their bones. Usually, children with progeria die due to progressive atherosclerosis, which leads to heart attacks and heart failure.
These were the common symptoms observed in a person suffering from this rare genetic disorder. In simple terms, this is a condition in which a child undergoes normal human aging, 8 times than in children without this condition. There is no way to prevent mutation of the gene, thus, this condition is something that could happen to anybody. Children suffering from progeria have often been ostracized, since people considered it to be a bad omen. Increasing awareness about this condition will help these children live their short lives peacefully.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for the advice of an expert on the subject.