Progeria

Description:
Progeria produces rapid ageing to children at the beginning of childhood. They usually look normal at birth and when they’re an early infant, but then they start growing slowly and don’t gain weight. The child’s eyes start to become prominent, the lips thin out, they have an unusually small chin, swollen ears, hair loss, aged-looking skin, joint abnormalities, and loss of fat under skin. Their nose may also be thin with a beaked tip.
Inheritance: Progeria usually occurs without cause. It’s rarely seen in more than one child in a family. It can affect males and females. Progeria is a irregular autosomal dominant mutation- a change in a gene. The gene is located on one of the non-sex chromes located in the nucleus. You only need one copy of the gene to develop the disease. One chrome in the pair can have a normal gene and the other chromosome can have the mutated gene.
Symptoms:
Some symptoms are growth failure during the first year of life, narrow, shrunken, or wrinkled face, baldness, loss of eyebrows and eyelashes, thin, dry, scaley skin, delayed or no teeth, or is shorter than average. Having a large head compared to the face, also known as Macrocephaly is also a symptom. Micrognathia is another symptom, which is having a small jaw. Having an open soft spot, also known as Fontanelle, is a symptom too.
Daily Life:

Diagnosis: Progeria is diagnosed through blood tests. You’re looking for a specific gene mutation. It takes a series of genetic tests and is observed by signs and symptoms.
Treatment:
There is no way to cure Progeria, but some therapies help ease the symptoms. Physical therapies are used to help prevent heart attacks and joint stiffness. Some people go to hydrotherapies. Growth hormone therapy has been attempted, but there was no process. Some take daily aspirins and vitamins. Bypass surgery is an option, and children infected should get frequent heart checks.

Research:
Right now, there is no prevention for Progeria. In April 2010, Progeria researchers made a handbook for help.


Additional Facts:
Progeria is linked to a short lifespan. Death is usually caused by the frequent strokes or heart attacks they frequently get. On average, someone with Progeria survive to their early teens. Some people fortunately live up to their thirties.
Pedigree Chart:
7896867587.jpg
Resources:

**A.D.A.M. PubMed Health Article on Progeria.**
**Progeria Research**