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Fibrodysplasia ossificans progressiva (FOP), is a rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified (turned to bone) when damaged. In many cases they can cause joints to become permanently frozen in place. The growths cannot be removed with surgery because such removal causes the body to "repair" the area of surgery with more bone.

Prognosis


Over time, as more bone grows and the patient loses mobility in more and more joints, it may become impossible for the patient to reach, walk, eat, or even breathe. The disease is usually fatal as bone crushes the internal organs. People with FOP usually lose all mobility by the age of 30 and die by the age of 40. There is no known cure.

Symptoms


Children born with FOP characteristically have short big toes. The first "flare-up" that leads to the formation of FOP bones is usually before the age of 10. Often, the tumor-like lumps that characterize the disease appear suddenly overnight. Because the disease is so rare, the symptoms are often misdiagnosed as cancer. This leads doctors to order biopsies, which can actually exacerbate the growth of these lumps.

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Fibrodysplasia ossificans progressiva R206H ACVR1 mut'n activates BMP-indep. chondrogenesis & zebrafish embryo ventrl'n. http://bit.ly/Y3Yf8
jonmoulton (Jon D. Moulton) Tue, 03 Nov 2009 23:36:13 -0000
Fibrodysplasia ossificans progressiva R206H ACVR1 mut'n activates BMP-indep. chondrogenesis & zebrafish embryo ventrl'n. http://bit.ly/Y3Yf8
On Discovery Channel's "Human Mutants: The Mystery of Growth," the disease, fibrodysplasia ossificans progressiva (F... http://bit.ly/15pUgo
FindGoodMovies (Anna Smith) Mon, 26 Oct 2009 18:02:06 -0000
On Discovery Channel's "Human Mutants: The Mystery of Growth," the disease, fibrodysplasia ossificans progressiva (F... http://bit.ly/15pUgo

 
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IFOPA - International Fibrodysplasia Ossificans Progressiva Association - Support group for families. Information about the condition, treatment, and research efforts.
Meta Description: [ The IFOPA is dedicated to improving FOP awareness & education, encouraging communication, and supporting medical research. ]

McKay Orthopaedic Research Laboratory - Summaries of current research projects at the University of Pennsylvania.

SFGate - San Francisco Chronicle article describes the disease, includes anecdotes about the lives of several patients.

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