Stone Man's Disease - When Muscle turns to Bone
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Asmi Chawla
Stone Man's Disease - When Muscle turns to Bone
The disease unreachable to the human thoughts, unimaginable, a small alteration in a single gene producing a radically different outcome - Fibrodysplasia Ossificans Progressiva. It is a very extremely rare connective tissue disease. The fibrous tissues including muscle, tendon, ligament, are spontaneously ossified.

Pathophysiology -

It leads to the transformation of connective tissue and muscle tissue into a secondary skeleton. This causes endothelial cells to transform into mesenchymal stem cells and then to bone.

The gene that causes ossification is normally deactivated after the foetus bones are formed in the womb but in patients with Fop the gene keeps working.

Fortunately the diaphragm, tongue, extraocular muscles are spared to some extent in this process. But the end result from is an overgrowth of bone and cartilage and fusion of the joints.

Epidemiology -

Till 2008 approximately 700 cases had been diagnosed making it one of the rarest diseases. Medical reports describe that individuals affected by fop date back as far as 17 century. The best known case was that of Harry Eastlack (1933-1973). His condition began to develop at age of 10 yrs . 6 days before his 40th birthday his body had completely ossified leaving him able to move only his lips. His skeleton is preserved at mutter museum in Philadelphia.


- Clinically it is measured by elevated levels of alkaline phosphatase and bone specific alkaline phosphatase.
- It is 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.
- It causes loss of mobility to affected joints , including inability to fully open the mouth limiting speech and eating.
- Extra bone formation around rib cage restricts the expansion of lungs and diaphragm causing breathing complications.
- The symptoms can be misdiagnosed as cancer or fibrosis. - - - The median survival rate of this cruel disease is 40 yrs with proper management.
- Delayed diagnosis trauma and infections can decrease the life expectancy.

Treatment: There is no cure or approved treatment for FOP. If attempts are made to surgically remove the bone it results in explosive bone growth. Clinical trials for treating the disease are still going on......
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