Fibrodysplasia ossificans progressiva
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva (pronounced: fy-bro-dys-pla-see-a os-si-fi-cans pro-gres-si-va), also known as FOP, is a rare and disabling genetic condition that causes bone to form in muscles, tendons, ligaments and other connective tissues. Bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone.
Etymology
The term "Fibrodysplasia Ossificans Progressiva" is derived from the Greek words: "fibro" (fibrous tissue), "dysplasia" (abnormal growth or development), "ossificans" (turning into bone), and "progressiva" (progressing).
Symptoms
The first symptoms of Fibrodysplasia Ossificans Progressiva, often appearing in early childhood, include malformed big toes and painful, soft tissue swellings. These swellings may appear spontaneously or after a minor injury. Over time, these swellings transform into bone, a process known as "ossification."
Causes
Fibrodysplasia Ossificans Progressiva is caused by a mutation in the ACVR1 gene. This gene provides instructions for producing a protein that is involved in the growth and development of bones and muscles. The mutation causes the body to essentially "reprogram" soft tissues into bone.
Treatment
There is currently no cure for Fibrodysplasia Ossificans Progressiva. Treatment is focused on managing symptoms and preventing complications. This may include medications to manage pain and inflammation, physical therapy to maintain mobility, and surgery in some cases.
Related Terms
External links
- Medical encyclopedia article on Fibrodysplasia ossificans progressiva
- Wikipedia's article - Fibrodysplasia ossificans progressiva
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