FOD is a genetic disorder that turns the soft tissues of a human into bone over time. As the joints become effected, this causes loss of mobility. When the mouth is affected, speech and the ability to eat may be lost. People with this disorder normally have malnutrition issues due to their eating problems, and also may have trouble breathing due to the ossification of extra bone matter around the ribs. This effects the lungs and oxygen capacity of the lungs.
Everyone has an ACVR1 gene that is found in bones, muscles, tendons, and ligaments. This gene is responsible for turning cartilage into bone (ossification) as we develop as children. When the ACVR1 gene is mutated, the gene can allow ossification to continue through a lifetime. This then causes joints to fuse together and skeletal muscles to harden into bone. This disease effects any soft tissue on the body. This includes the joints, the respiratory system (the lungs), and any part of the body that is composed of soft tissue. It can effect how we breath, move, and function in our everyday lives.
The process usually becomes noticed in early childhood, starting from the neck and shoulders and then proceeding down to the limbs of the child. Any trauma such as falling or medical procedures may trigger swelling and more rapid ossification of that area. The disorder is estimated to be in about 1 to 2 billion people worldwide but is very rare. There have been several hundred cases reported.
This condition is inherited in an autosomal dominant pattern; this means that one copy of the altered gene in each cell is enough to cause the disorder. Most cases of this are not hereditary and happen with no history of the disease in the family.In a small amount of cases, the gene is inherited from parents.There are currently no treatments for this disease. Surgeries that have been done have proven to only make the ossification worse.