Thursday, December 5, 2013
Have You Heard of the Stone Man Syndrome?
I must be living in another planet since this was my first time to hear of this very rare genetic disease. The following video is very informative.
Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place. Surgical removal of the extra bone growths has been shown to cause the body to "repair" the affected area with more bone.
Children born with FOP have deformed big toes, possibly missing a joint or simply presenting with a notable lump at the minor joint. The first "flare-up" that leads to the formation of FOP bones usually occurs before the age of 10. FOP is a genetic disease. The bone growth progresses from the top downward, just as bones grow in fetuses. A child with FOP will typically develop bones starting at the neck, then on the shoulders, arms, chest area and finally on the feet. Specifically, FOP involvement is typically seen first in the dorsal, axial, cranial and proximal regions of the body. Later the disease progresses in the ventral, appendicular, caudal and distal regions of the body. However it does not necessarily occur in this order due to injury-caused flare-ups. Often, the tumor-like lumps that characterize the disease appear suddenly.
Because the disease is so rare, the symptoms are often misdiagnosed as cancer or fibrosis. This leads doctors to order biopsies, which can actually exacerbate the growth of these lumps. According to a report last year, there are only about 700 cases of this disease worldwide and about 1 case in 2 million people. A very rare disease indeed.
With the exception of glucocorticoids that may help reduce inflammation, there is currently no treatment or cure for FOP. For the afflicted, it disfigures, distorts, and renders the person immobile, frozen into fixed positions. Often FOP forces individuals to become reliant on others for basic needs, eg, eating, drinking, and hygiene. The worst part of this disease is that not only does it entomb individuals in a shell of bony growths but their dignity and independence get slowly stripped away.
For details read the Wikipedia.