Bone man syndrome is a rare disorder when a person’s muscle tissue and connective tissues like ligaments and tendons are replace by bone over time. You may think this just a nightmare or a myth but it is estimate to affect one person out of two-million. Not many of these cases have been reported, in fact, there have only been a couple hundred cases reported. Bone man syndrome is the common name but the true name is fibrodysplasia ossificans progressiva (FOP).
The bone transformation normally becomes noticeable during childhood. It starts with the neck and shoulders and proceeds down the body and into the limbs. The transformation can be sped up by trauma to the muscles such as a fall or a punch. Outbursts can be triggered by viral infections like influenza. People with bone man syndrome are often born with malformed large toes. The toes extinguish this disorder from other bone and muscular diseases.
Right now you are wondering could this happen to me? No it could not unless you already have it. This condition is caused from a genetic mutation in the ACVR1 gene. The mutation changes codon 206 from arginine to histidine in the ACVR1 protein. This mutation causes the endothelial cells, which are the cells lining the blood vessels, to transform into mesenchymal stem cells and then to bone. Because the disease is so rare, a lot of doctors misdiagnose it as cancer or fibrosis.
There is currently no known cure for Bone man Syndrome. Attempting to surgically remove the bone causes even more bone growth. People with FOP should avoid falling because that can provoke bone growth. Understanding and researching the cause of bone formation in FOP could help in treating other bone disorders and surgeries. There have been approximately 700 confirmed cases across the globe. Many of them have had to just live with it and try to make the best of their lives.
Seanie Nammock is one of those 700 cases with FOP. She has had to live her life much more careful. She can’t receive any injections so she has to take very good care of her teeth so she doesn’t get a cavity. When she first went in to the doctor many people were confused because they have never seen this disorder before. FOP is a very rare disease that showcases how so little can change to ruin our lives.
Questions:
- What other diseases could be cured from the research of FOP?
- What are other popular cases of FOP?
- Why do the children with FOP have malformed toes?
I find this sort of thing fascinating. To realize that such a tiny change in our DNA can have such a huge effect on the processes of our body. We have millions upon millions of pieces of code for our body, and they all have work perfectly for us to survive. Just think, what other things could change in our DNA and what are their effects?
Malformed toes are symptoms of this disease that distinguish it from other genetic diseases
http://news.bbc.co.uk/2/hi/health/4755365.stm
I am really intrigued by this post. I have never before heard of a disease like this and I had no idea that something like this was even possible. I probably have never heard of anything like it because it only happens in about 1 in 2 million people. I think that it is crazy how your muscles can just turn to bone like that. Also, I think it is crazy that you can survive that! I found an article on another girl who has the disease: http://www.theatlantic.com/magazine/archive/2013/06/the-mystery-of-the-second-skeleton/309305/