Fibrodysplasia ossificans progressiva: Stone Man Syndrome

Fibrodysplasia ossificans progressiva: Stone Man Syndrome

Stone Man Syndrome is painful, debilitating, and extremely interesting to learn about. Stone man syndrome or Fibrodysplasia ossificans progressiva is a disease that causes “formation of bones when tissues like tendons, muscles, ligaments and other connective tissues are damaged”( “Stone Man Syndrome”). It has multiple painful symptoms. It is caused by a genetic disorder that occurs once in every two million people. So far there is no cure for FOP, but there have been advancements in the treatments to slow the disease. The disease is “an autosomal dominant condition… In most cases FOP is a new mutation or an accident ...

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sign is that children with FOP “scoot on their buttocks [instead of crawling]” (Vietti ) “Inflamed (and sometimes painful) swellings” are yet another sign of Stone Man Syndrome ("Working to Raise Awareness and Help Find a Cure.").
FOP is caused by a mutation on the “The ACVR1 gene [which,] provides instructions for producing a member of a protein family called bone morphogenetic protein”("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). The disease is a dominant trait which means only “one copy of the altered gene” is needed to inherit the disease ("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). If a parent has the disease, then their is a high chance that their offspring will inherit the disease. Fibrodysplasia Ossificans Progressiva is misdiagnosed an “estimated at 80 percent [of diagnoses done] or higher” ("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). The disease is ...

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Fibrodysplasia ossificans progressiva: Stone Man Syndrome. (2017, August 6). Retrieved October 22, 2017, from http://www.essayworld.com/essays/Fibrodysplasia-ossificans-progressiva-Stone-Man-Syndrome/106377
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"Fibrodysplasia ossificans progressiva: Stone Man Syndrome." Essayworld.com. August 6, 2017. Accessed October 22, 2017. http://www.essayworld.com/essays/Fibrodysplasia-ossificans-progressiva-Stone-Man-Syndrome/106377.
"Fibrodysplasia ossificans progressiva: Stone Man Syndrome." Essayworld.com. August 6, 2017. Accessed October 22, 2017. http://www.essayworld.com/essays/Fibrodysplasia-ossificans-progressiva-Stone-Man-Syndrome/106377.
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PAPER DETAILS
Added: 8/6/2017 12:30:47 AM
Submitted By: bietenduvelol
Category: Diseases & Disorders
Type: Premium Paper
Words: 602
Pages: 3

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