What is Fibrodysplasia Ossificans Progressiva ?
FOP Disease is a highly uncommon disorder that causes fibrous tissue at the connecting point between bones in the body to become rigid. This results in common fractures sometimes resulting in permanent disfigurement, as the body is unable to repair the ligament and tendons between the broken bones, as these have become inelastic and bone-like in their structure.
Fibrodysplasia ossificans progressiva is a genetic disorder and the symptoms often present themselves in early childhood. Normal bone growth occurs first in the cranium, then down toward the torso and finally in the legs and feet. As such, the symptoms of fibrodysplasia ossificans progressiva are often seen to occur in the same order, first in the top of the body and progressively further down as time passes.
The serious problems associated with fibrodysplasia ossificans progressiva begin when the patient becomes injured, as the connecting muscle tissues in joints are unable to repair themselves efficiently, and become fixed in place. Whereas a person unaffected by the disease is able to recover after fracture, the bone of a person with fibrodysplasia ossificans progressiva can be permanently locked into its new position. The reason for this is that the new bone formed at the site of the injury can fuse with the existing bones, rendering recovery virtually impossible.
The process that hardens muscle tissue into bone is one that begins in the womb and allows the foetus to develop a normal skeletal structure. Usually this process is deactivated by a gene shortly after all the bones in the body have formed. However, in patients with fibrodysplasia ossificans progressiva, the gene is never deactivated and continues to transform muscle into bone throughout the life of the patient.
As the disease is so rare, doctors often fail to correctly diagnose fibrodysplasia ossificans progressive, and incorrectly assume it to be various forms of cancer. This means that biopsies are often ordered in vain, which can actually render the condition more aggressive.
There is no cure or indeed effective treatment for fibrodysplasia ossificans progressiva. Surgery is not effective for skeletal disease, as removal of the newly formed bone merely accelerates the bone-forming gene into ossifying more soft tissue.
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