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Fibrodysplasia Ossificans Progressiva (FOP)
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Genetics
- Caused by a substitution mutation in the ACVR1 protein
- Affects approx. 1 in 2 million people
- Causes endothelial cells to turn into mesenchymal stem cells, then bone
- Autosomal dominant allele
Treatment
- No proven treatments
- Surgery causes condition to worsen
- Steroids as a last resort for bad short term flare-ups
Impacts on Life
Interesting Facts
- Cannot perform tasks with high risk of injury
- this can include walking for some
- Mobility significantly decreases over time
- Eventually will not be able to function at all
- The oldest living person with FOP is 55 years old
- A compound found in sharks was thought to be a possible treatment (SHARKS!!!)
Symptoms
- Malformations of the big toes and thumbs
http//3.bp.blogspot.com/-ccfI6qlAqhA/UN8ZTkR7ASI/AAAAAAAAABI/lV9Ion_gFBs/s1600/319639_f520.jpg
- Bone forming where it should not after trauma
Fibrodysplasia Ossificans Progressiva (FOP)
Effects
- Formation of bone after bodily trauma
- Decreases mobility over time, contorts body
- Eventually traps person inside their own skeleton
More Interesting Facts
Sydney Stiffler
- There is an FOP skeleton in the Mütter Museum in Philadelphia, PA
- Often misdiagnosed as cancer or fibrosis
- Doctors will perform biopsy and aggravate the condition
- Ossification occurs from the neck downwards over time, with the feet to be the last affected.
https: //www.youtube.com/watch?v=GksggHYAA7M
Works Cited
"FOP Fact Sheet." FOP Fact Sheet. Web. 18 Apr. 2014. <http://www.ifopa.org/fop-fact-sheet.html>.
"Fibrodysplasia Ossificans Progressiva." - Genetics Home Reference. Web. 18 Apr. 2014. <http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva>.
"Fibrodysplasia Ossificans Progressiva." Wikipedia. Wikimedia Foundation, 18 Apr. 2014. Web. 20 Apr. 2014. <http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva>.
"Fibrodysplasia.wmv." YouTube. YouTube, 08 Oct. 2010. Web. 20 Apr. 2014. <
"JCI - The Fibrodysplasia Ossificans Progressiva R206H ACVR1 Mutation Activates BMP-independent Chondrogenesis and Zebrafish Embryo Ventralization." JCI - The Fibrodysplasia Ossificans Progressiva R206H ACVR1 Mutation Activates BMP-independent Chondrogenesis and Zebrafish Embryo Ventralization. Web. 20 Apr. 2014. <http://www.jci.org/articles/view/37412>.
FOP Progression Photos
http://www.ifopa.org/fop-fact-sheet.html