Progeria+Melanie+L

Progeria **Description: ** Progeria is an extremely rare genetic disease. It accelerates the ageing process about seven times the normal person. The disease affects between one in four million people. Most children live no longer than their early teenage years. One or two people have lived to be as old as twenty or twenty-one.

**Inheritance: ** Progeria is not inherited it is a mutation in the LMNA gene in the DNA. It always almost occurs in people with no family history of the condition. LMNA is known as lamin A.

**Symptoms: ** · Growth failure the first year of life. · Narrow, shrunken or wrinkled face. · Baldness · Loss of eyebrows and eyelashes · Short stature · Large head · Dry, scaly, thin skin. · Small jaw · Teeth-delayed or absent.

**Daily Life: **

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**<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;">There is no specific test to diagnose progeria. Doctors confirm the disease by observing the symptoms and signs. Symptoms do not begin to show until the child is about eight-teen months old. Some signs doctors look at are hair loss, failure to grow, and visible veins. Genetic testing can be used to find the LMNA mutation at the first appearance of the symptoms.

**<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: 14.25pt; margin: 0in 0in 0pt;">There is no real cure but there is a medication to help prevent certain symptoms. Taking low dose aspirins daily may help prevent heart attacks. Statins lower cholesterol and anticoagulants may be taken to prevent blood clots. Physical and occupational therapy help with joint stiffness, hip problems and it may help them to remain active. Permanent teeth may start coming in before his/her baby teeth fall out so, extraction of primary teeth helps prevent problems associated with loss of baby teeth.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">The Progeria Research Foundation (PRF) is much closer to finding a cure then any other research foundation. Farnesyltransferase inhibitor (FTI) is a drug originally made for cancer that improves some signs of disease in a Progeria. There are many programs helping progeria children. In 2003 researchers found the LMNA (bad gene) a one-letter typo in the billions of letters.

**<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: 115%; margin: 0in 0in 10pt;">Another name for progeria is Hutchinson Gilford Syndrome or HGPS. Progeria does not affect the mind of the children. For every one year for a child that has progeria is equal to ten years of aging. Progeria is a very rare disease over one hundred cases have been reported since 1886. A person with progeria does not have any limitations other then their stiff joints. They can basically live normal with a few precautions. Usually the child only lives up to their early teen age years. By not living to their adult hood specialists are not completing sure this disease can be past. <span style="font-family: 'Times','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">It is estimated that 80% of Progeria deaths are caused by congestive heart failure or heart attacks. It is also estimated that 97% of all children with Progeria are Caucasian and males outnumber females by a 1.5:1 ratio

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

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