Progeria-Emily+P

Progeria **Description: ** Progeria is a rare condition. Its symptoms is similar to regular human aging, but happen in children. Children affected by this disease age seven times the normal rate. Approximately one in eight million are born with Progeria.

**Inheritance: ** This disease is not inherited. The disease is thought to be due to a single mutant, dominant gene. No parent is a carrier or affected by Progeria, so it’s thought to represent a sporadic new mutation that happens at conception. It is very rare to see two Progeria patients in one family.

**Symptoms: ** -Not growing during the first year of life -Short stature -Small jaw -Limited range of motion -Large head for size of the face -Soft spots -Dry, scaly, thin skin -Teeth development is delayed or not there -Loss of eyebrows and eyelashes -Narrow, shrunken or wrinkled face <span style="color: black; display: block; font-family: 'Times','serif'; font-size: 12pt; text-align: center;">-Dwarfism

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Daily Life: **

<span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">The daily life of someone with Progeria is very tiring. You can’t carry heavy objects for a long time period. For example, carrying school books to and from classes can be difficult. It’s challenging to participate in some sports, as you can’t move easily or reach far. School can be be hard, also, because some people stare and can make fun of you. Depending on how old you are, it’s hard to breath.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">Now that scientists have discovered the cause of Progeria, (a mutant LMNA gene) they can take a sample of blood and test for the gene. Also, physical appearance can tell doctors.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">There is currently no treatment for Progeria.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">Drs. Leslie Gordon and Scott Bern started the Progeria Research Foundation after their son was diagnosed. PRF is giving money to the first Progeria clinical drug trial that may learn how to treat or cure the disease.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">The average patient survives to the early teens. Some live to about twenty, and rarely patients live to early forties. Most patients die of atherosclerosis, a heart disease, or stroke.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square: **

<span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">Because no parent is a carrier, there is no Punnett Square or Pedigree Chart. Progeria is thought to be caused by a mutation in the LMNA (Lamin-A) gene. Lamin A protein is the glue that holds the cell’s nucleus together. Defective Lamin A makes the nucleus unstable, starting the disease of Progeria.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: **

<span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">PubMed Health- <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">[]

<span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Manbir Online- <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">[]

<span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Progeria Research Foundation- <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">[] <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">[] <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">[]