Progeria: Hutchinson-Gilford Syndrome
Progeria is a type of genetic disorder where aging is rapid and premature. There are different genetic disorders with this condition. All of them reflect rapid premature aging in victims. Collectively, they are called progeroid syndromes. But they are treated and considered as clinically unique from one another.
Clinical diagnosis of these children shows that they appear old. For now, there is no known treatment or prevention for this condition. However, for treatment of their other diseases like heart problems and bone problems, they are treated the same way people with these problems are treated.
Hutchinson-Gilford Progeria Syndrome (HGPS)
One of the rarest forms of progeria is Hutchinson-Gilford progeria syndrome. It is the most well-known kind of progeria. It is considered as classic progeria. It was named after Jonathan Hutchinson and Hastings Gilford who discovered and described this syndrome. It was described by Jonathan Hutchinson in 1886 where a 6 year old patient had rapid and dramatic aging characteristic. In 1904, Hastings Gilford published a book illustrating the manifestations of this condition.
What happens to the genes is that the mutations of the LMNA (pronounced Lamin A) that happens at the time of conception are known to be responsible for this disorder. It is believed to have come more commonly from the sperm cell. However, few studies have shown that some egg cells can also be responsible for this condition. The cells in the child then form a new cell (de novo) that neither comes from both parents. Neither of the parents’ genes is responsible for this. This new cell is a defective gene that causes this condition. These abnormal LMNA causes the cells to die prematurely.
Scientists have been studying this disorder to find the “fountain of youth”. It may sound ironic to most of us but they believe that if they can reverse the effects of this disease, they may have the key to the “fountain of youth” by manipulating genes.
Though HGPS is a genetic disorder, people with this disorder usually do not have anyone else in the family with this condition. This is not a hereditary disease that can be passed on from parent to offspring nor is it a disease that siblings will likely share. But very few incidences happened where siblings share this condition.
Infants who were born with this syndrome appear to be normal at birth. HGPS manifests itself in early infancy. It is an extremely rare disease which is primarily a syndrome in children. It is estimated that about 1 infant in 8 million births are affected by it. To date, there are only more than a hundred reported cases of this syndrome since 1886. This condition is more common among Caucasians than any other ethnic background.
Affected children appear normal in infancy. But after a few months, they develop a distinctive appearance. They’d grow slowly and do not gain weight at the expected rate. Their facial appearance and overall appearance begin to change.
- Prominent eyes
- Thin nose with beaked tip
- Protruding ears
- Thin or wrinkled skin due to loss of subcutaneous fats (fats under the skin)
- Hair loss (alopecia) including thinning of eyelashes and eyebrows
- Delayed teeth formation and/or overcrowding of teeth
- Small body and short in stature
- Large head, small face, chin, and jaw
- Obvious scalp veins
- High pitched voice
Health Related problems
- Limited range of motion
- Stiffness of joints
- Hip dislocations
- Heart problems
However, there still is no known case where the child develops dementia, senility, cataracts, and diseases that develop due to poor habits like drinking and smoking. Their average life expectancy is 13 years. But there are few incidences where the patient can live as long as late teens to early 20s. The leading cause of death is associated with atherosclerosis (hardening of the arteries) such as heart attack and stroke.
Although the physical appearance matures quickly, the mental capabilities of the child is normal. Hutchinson-Gilford progeria syndrome is oftentimes misdiagnosed as Wiedemann-Rautenstrauch syndrome.