Now picture waking up one day and finding that you can’t move your shoulder, not because of an injury, but because your muscles are slowly turning to bone.
This is Fibrodysplasia Ossificans Progressiva (FOP), one of the rarest genetic disorders in the world.
In people with FOP, the body is born with a mutation in the ACVR1 gene that causes the body to mistake muscles, tendons, and ligaments for tissue that should turn into bone. These soft tissues are gradually replaced by bone over time, forming a “second skeleton” that severely limits movement.
Routine medical procedures can be difficult, as even minor injuries, injections or surgery can cause new bone growth. For this reason, surgery to remove the excess bone is usually not recommended, since it can cause additional bone growth.
An abnormally shaped big toe at birth is one of the earliest signs of FOP. As the disease advances, daily tasks like raising an arm, turning the head or walking become more difficult.
No cure exists, but research into the genetics of the disease has resulted in new therapies that can help slow the disease and enhance quality of life.
FOP is a very rare condition in the world, but has helped scientists learn a lot about the growth and repair of bones. The study of this unusual disease could help millions of people suffering from more common bone diseases.
Before today, have you ever heard of a situation where the body would create bone where it shouldn’t?
MBH/PS