Hutchinson-Gilford Progeria syndrome is an extremely rare genetic disorder. It affects children, causing them to age faster than normal. The following HealthHearty write-up provides information on this genetic disorder.
There are about 64 cases of Hutchinson-Gilford Progeria syndrome (HGPS) in the world today. Progeria is an extremely rare disease that affects about 1 in 8 million newborns. The word Progeria is derived from the Greek word progeros. The term pro means before and geros means old age. This rare genetic disease causes accelerated aging in children. It was first described by an Englishman, Dr. Jonathan Hutchinson in 1886 and then again by Dr. Hastings Gilford in 1897. Thus, the syndrome was named after these two doctors.
These children age 4 to 8 times faster than normal children. By the time the child is 13 years of age, he/she tends to look as old as his/her grandparents.This is a fatal disease, and most children unfortunately don’t survive beyond the age of 13 years.
Causes
Scientists were able to identify the cause of Progeria syndrome in the year 2003. They have identified a gene called LMNA (pronounced Lamin A). This gene is responsible for production of Lamin A protein that helps in stabilizing the nuclear membrane of the nucleus in a cell. When the Lamin A protein is defective, it causes instability in the cells. This causes damage to the cell nuclei leading to cell death. Thus, causing abnormal, accelerated aging in children. This is a sporadic autosomal dominant mutation (de novo). This is not a hereditary condition as the gene is not transferred from parents to children.
Symptoms
The symptoms are not observed immediately after birth. However, by the time the child reaches 10 to 24 months of age, the symptoms begin to appear. The symptoms include:
- Child begins to show growth failure
- Loss of body fat
- Loss of hair especially on the scalp
- Almost no visible eyebrows and eyelashes
- Signs of aging on skin
- Height and weight is less as compared to other children of same age group
- Beak-shaped nose
- Small face
- Small jaw (micrognathia)
- Stiffness of joints
- Hip dislocation
- Progressive cardiovascular diseases
- Diabetes
- Cataract
- Osteoarthritis
- Generalized atherosclerosis
Diagnosis
If a doctor suspects the child to be affected by HGPS, he may advise genetic testing. The child’s blood sample is taken and analyzed for diagnosing a mutation on the Lamin A gene. Apart from genetic testing, the doctor also observes all the other physical symptoms exhibited by the child.
Treatment
The treatment usually includes treating the various diseases affecting the child. This includes management of arthritis and cardiovascular diseases. The treatment also includes occupational and physical therapy. Scientists have not yet found a cure. However, there are certain breakthroughs that may prove to be helpful for the affected children. After the discovery of the mutation in gene LMNA being the main contributing factor, scientists have been conducting research to find drugs that might help in reversing the effects of Progeria cells.
Scientists are working on Farnesyltransferase inhibitors or FTIs class of drugs. After testing mice affected by this condition, they have found the FTIs are able to restore the shape of the nuclei in cells. If this experiment proves to be successful, it may help children affected by HGPS. However, scientists are also weighing all the pros and cons of this treatment. So far, it has been proved that FTI drugs will not induce cancer in cells. If at all the child develops cancer, it will be due to the cellular damage occurring in their bodies due to effects of Progeria.
HGPS is a debilitating disorder, which can be perturbing for the parents of the affected child. It is always very disheartening to see young children age faster and look 4 to 8 times their age. However, these children have normal intelligence, just like any other child of their age. Only difference is that they appear old due to this genetic disorder.
Disclaimer: The information provided in this article is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.
