Hutchinson- Gilford Progeria syndrome(HGPS) which is more commonly known as Progeria is an extremely rare genetic disorder in which the child ages rapidly. Progeria must be diagnosed and is a lifelong illness.
Progeria was first detected by Dr. Jonathan Hutchinson in 1886, then by Dr. Hastings Gilford in 1897. This is evidently where the disorder got its name.
Progeria is caused by a genetic mutation that occurs before birth. The mutation occurs in the LMNA gene. The LMNA gene is responsible for creating a protein that helps maintain the structure of the nucleus in a cell. The LMNA gene holds the nucleus together, and without strength in the nucleus, the cells can become weak and cause aging.
HGPS is a sporadic autosomal dominant mutation. …show more content…
Progeria syndrome causes rapid ageing in the affected person it causes things such as: hair loss, slow growth, an underdeveloped jaw, delayed tooth development, wrinkled or dry skin, bad hearing and bad sight, and incomplete sexual maturation.
Being that Progeria patients are not sexually mature, they cannot have children. People with Progeria technically have the bodies of much older individuals so it prevents fertility.
Most progeria patients do not live past their teens which adds to the fact that they cannot have offspring. Though they may age faster then normal there are no learning disabilities that accompany the disease.
There are no known cures for progeria but treatments can help lessen the effects of HGPS.
One of the treatments is called Lonafarnib it was first used as a treatment for cancer but has now helped treat the symptoms of progeria it improves hearing, bone structure, flexibility in blood vessels, and helps with weight gain
Other simple treatments can be small doses of asprin, and other medications. Due to the rapid aging the children may also need physical and occupational therapy, they may also need their baby teeth pulled out because their mature teeth come in