Progeria-Amanda+K.

Progeria  **Description: ** Progeria is a rare syndrome in children characterized by physical signs and symptoms suggestive of premature old age. It is a disease in which produces rapid aging in a person beginning in childhood. While their body matures quickly, their brain matures at a normal rate. A mutation affects the LMNA gene. The LMNA gene produces protein that holds the nuclei together. When there is a mutation, the proteins are not produced properly, causing the cells to be unstable and lead to the disease Progeria. **Inheritance: ** Progeria is inherited by the sporadic mutation, which arose during the formation of the sperm cell that made the person who is affected. HGPS is caused by one mutation called 608G>G in a gene called LMNA on chromosomal at the location p21.2. **Symptoms: ** People who are affected by Progeria have symptoms that include: **<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Daily Life: ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times New Roman','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Daily life for someone who has Progeria isn’t much different from our lives. Progeria doesn’t affect the brain cells; therefore, people who are affected by this think the same as we do and can do mostly all the same things as us; however, they age a lot faster and when they are only thirteen, they have about the same frail body as someone in their 90's.
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Failure in growth during their first year of life.
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Shrunken, wrinkled, narrow faces.
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Baldness(all over the body, including loss of eyebrows and eyelashes)
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Short structure and a large head for the size of their face.
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Open soft-spot at birth.
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times New Roman','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Dry, scaly, thin skin
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times New Roman','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Limited range of motion
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times New Roman','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Hip dislocation
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times New Roman','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Small jaw and delayed or absent formation of teeth.

<span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><img style="visibility:hidden;width:0px;height:0px;" border=0 width=0 height=0 src="<span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[] " /><object height="267" width="200" classid="clsid:D27CDB6E-AE6D-11cf-96B8-444553540000"codebase="<span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[] " id="widget_name"><param name="movie" value="<span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[] " /><param name="quality" value="high" /><param name="allowScriptAccess" value="always" /><param name="width" value="200" /><param name="height" value="267" /><param name="allowNetworking" value="all"/><param name="wmode" value="transparent" /><param name="allowFullScreen" value="true" /><embed height="267" width="200" src="<span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[] " quality="high" allowScriptAccess="always" allowNetworking="all" wmode="transparent" allowFullScreen="true" pluginspage="<span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[] " type="application/x-shockwave-flash" name="widget_name"> <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Diagnosis: ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Progeria can be diagnosed by noticing the affected person’s failure to grow and hair loss. To diagnose if a person has Progeria, they can have genetic testing. The genetic tests for LMNA mutations, in which can conform if the person is affected by Progeria. <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"> <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"> <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Treatment: ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: normal; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">There is no treatment for the disease Progeria; however, FTI drugs prevent children, with Progeria, from dying young. <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Research: ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: normal; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">In effort to know more about Progeria, DNA is being examined to determine the changes. Research about the FTIs was conducted and it was determines that the drugs do not inhibit proteins, but FTIs act on the part of Progeria that is affected. <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Additional Facts: ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">There are 78 children in 31 different countries currently living with Progeria. The average life expectancy for a child with progeria is about 13; however, even though it‘s very rare, people with this disease can live up 30. <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Chromosome Mutation: ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: black; font-family: 'Times New Roman','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Ninety percent of the children affected by Progeria have a mutation on the gene that encodes the protein lamin A. One mutation called 608G>G, in a gene called LMNA on chromosomal, causes HGPS. To have the disease of Progeria, a mutation affects the LMNA gene. It is believed to be caused by just one abnormal gene. The gene has one normal copy and one abnormal copy, not a recessive mutation where both copies are abnormal. There are normally two copies, one from each parent, for each gene. Due to the fact the neither parent carries or expresses the mutation, each case is believed to represent a sporadic new mutation. <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Resources: ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Progeria ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[|**www.ncbi.nim.nin.gov/pubmedhealth/PMH0002622**] <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"> <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Progeria ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[|**www.nhearitedhealth.com/condition/Hutchinson-Gilford-Progeria-syndrom/190**] <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"> <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">Progeria ** <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">[|**www.mayoclinic.com/health/progeria/D500936/DSECTION=test-and-diagnosis**] <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt; text-align: left; text-decoration: none; vertical-align: auto;"> <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;"><span style="background-color: transparent; color: #0000ff; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: underline; vertical-align: auto;">Pub Med Health
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">**<span style="background-color: transparent; color: black; font-family: 'Times','serif'; font-size: 16px; text-align: left; text-decoration: none; vertical-align: auto;">NCBI **
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