Emily Schwerdtfeger and Ami Ballmer

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Where on Chromosome is Problem?

Mutations in the ACVR1 gene on the second chromosome cause this disease. The ACVR1 gene controls bone morphogenic protein type 1 receptors. The mutation is thought to disrupt the function of the receptor, leaving constantly activated, and therefore causing overgrowth of bone and cartilage. While it can be inheritable from a parent with the disease, in most cases it is a new mutation.

What Is the Problem?

Muscle and connective tissue is slowly replaced with bone and cartilage. This slowly impedes normal function as the joints and muscles become unusable. This disease is first noticed in childhood, where the growths start in the neck and back and move down the limbs. Attempts to remove the growths only spur further bone and cartilage growth as the body tries to heal. Viral infections can cause similar flair-ups. Many with this disease also have malformed big toes or other skeletal deformities.

What is the Prognosis?

A slow and painful death. The oldest person with this disease died at 40.

Cite Your Sources

Fibrodysplasia Ossificans Progressiva