Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva (pronounced: fy-bro-dys-pla-see-a os-si-fi-cans pro-gres-see-va), often abbreviated 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" comes from the Latin roots: "fibro" meaning fibrous tissue, "dysplasia" meaning abnormal growth or development, "ossificans" meaning turning into bone, and "progressiva" indicating that this process is progressive or continues over time.

Symptoms

The first symptoms of FOP, often appearing in early childhood, are malformed big toes and painful, soft tissue swellings or lumps that typically develop into bone. Over time, individuals with FOP may lose the ability to fully open their mouths, making it difficult to eat and speak. They may also develop breathing difficulties as a result of extra bone formation around the rib cage that restricts lung expansion.

Causes

FOP is caused by a mutation in the ACVR1 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and other tissues. The mutation causes the body's repair mechanism to respond to injuries and inflammation by producing bone.

Treatment

There is currently no cure for FOP. Treatment is focused on managing symptoms and preventing complications. This may include medications to reduce pain and swelling, physical therapy to maintain mobility, and surgery to remove extra bone growth. However, surgery can often lead to more bone growth.

Related Terms

• Genetic disorder
• Mutation
• Bone
• ACVR1
• Physical therapy

External links

• Medical encyclopedia article on Fibrodysplasia Ossificans Progressiva
• Wikipedia's article - Fibrodysplasia Ossificans Progressiva

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