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    Quinci Haley-Progeria

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    Progeria is an extremely rare genetic disease where children experience premature aging. It is caused by a mutation in the LMNA gene which makes cells unstable and leads to accelerated aging. Physical symptoms include baldness, aged skin, joint stiffness, and cardiovascular disease which is usually the cause of death around age 13. Currently there is no cure, but some treatments can help manage cardiovascular complications. It is diagnosed through genetic testing and affects about one in 4 million newborns worldwide.

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    Quinci Haley-Progeria

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    60 views9 pages
    Progeria is an extremely rare genetic disease where children experience premature aging. It is caused by a mutation in the LMNA gene which makes cells unstable and leads to accelerated aging. Physical symptoms include baldness, aged skin, joint stiffness, and cardiovascular disease which is usually the cause of death around age 13. Currently there is no cure, but some treatments can help manage cardiovascular complications. It is diagnosed through genetic testing and affects about one in 4 million newborns worldwide.

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    Progeria is an extremely rare genetic disease where children experience premature aging. It is caused by a mutation in the LMNA gene which makes cells unstable and leads to accelerated aging. Physical symptoms include baldness, aged skin, joint stiffness, and cardiovascular disease which is usually the cause of death around age 13. Currently there is no cure, but some treatments can help manage cardiovascular complications. It is diagnosed through genetic testing and affects about one in 4 million newborns worldwide.

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    60 views9 pages

    Quinci Haley-Progeria

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    Progeria is an extremely rare genetic disease where children experience premature aging. It is caused by a mutation in the LMNA gene which makes cells unstable and leads to accelerated aging. Physical symptoms include baldness, aged skin, joint stiffness, and cardiovascular disease which is usually the cause of death around age 13. Currently there is no cure, but some treatments can help manage cardiovascular complications. It is diagnosed through genetic testing and affects about one in 4 million newborns worldwide.

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    Progeria

    By: Quinci & Haley


    Definition and symptoms
    Progeria is an extremely rare genetic disease where children have
    premature aging.

    Its name comes from the Greek word geras which means old age

    Newborns look normal but after a year their growth slows and they
    are much shorter and weigh much less than other kids their age.

    Physical symptoms: baldness, aged-looking skin, a pinched nose, and


    a small face and jaw relative to head size

    Internal symptoms: joint stiffness, hip dislocations, and and severe,


    progressive cardiovascular disease
    Causes of the Disorder
    The gene known as lamin A (LMNA) makes a protein that is necessary
    for holding the center (nucleus) of a cell together. When this gene has a
    defect, most researchers believe the genetic mutation makes cells
    unstable. Which shows to lead to progerias aging process.
    Inheritance
    Progeria is an autosomal dominant condition

    This disease comes from mutations in the LMNA gene and almost
    always occurs in people with no history of the disease in their family.
    How is it treated
    There is currently no treatments or cures for Progeria currently. However
    some children go through coronary artery bypass surgery in order to try
    and slow the life threatening cardiovascular complications.

    Most children with this disease die by age 13 from heart attack or
    stroke
    How is it diagnosed
    There is now a genetic test for Hutchinson-Gilford Progeria syndrome
    (HGPS) which is now available. Called FTI farnesyltransferase inhibitor.
    In the past doctors had to diagnose progeria off of physical symptoms.
    This test now lets doctors diagnose the child at a younger age and use
    treatment early-on in the disease process.

    Such as:
    Skin changes

    Failure to gain weight

    They were not fully apparent until the first or second year of life.

    Dwarfism
    What are the odds?
    This disease only affects one in 4 million newborns worldwide

    -only 80 children in the world currently have this disease and 18 of


    them are from the US

    - it doesnt matter what gender they are or where they live


    What we learned
    - I learned that anyone can be affected by this disease, your parents
    dont necessarily have have Progeria

    - This is a very rare but serious condition

    - Kids still suffer from this disease today and there are still no cures
    for it
    References
    Learning About Progeria. (n.d.). Retrieved March 31, 2017, from
    https://www.genome.gov/11007255/learning-about-progeria/

    About Progeria. (n.d.). Retrieved March 31, 2017, from


    http://www.progeriaresearch.org/about_progeria/

    Progeria Causes. (n.d.). Retrieved March 31, 2017, from


    http://www.mayoclinic.org/diseases-conditions/progeria/basics/causes/con-20
    029424

    Hutchinson-Gilford progeria syndrome - Genetics Home Reference. (n.d.).


    Retrieved March 31, 2017, from
    https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome#inheri
    tance

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