Stone Man Syndrome
Fibrodysplasia Ossificans Progressiva
Commonly referred to as Stone Man Syndrome, the scientific name of this disease is Fibrodysplasia ossificans progressiva. Its frequently abbreviated as FOP. If you break down the word parts in the scientific name, the name translates to "the bad progression of fibrous materials into bone".
People born with this disease will usually have their first complication from the disease before the age of 10. As babies, they will probably be born with big and deformed toes, and missing or lumps of bones where joint should be. The abnormal bone growth happens from the head down, the same direction fetal development of bone happens. This isn't always the case because trauma to bodily tissues can cause accelerated ossification, which cause bone growth to spread from the point of trauma. Over time, the ACVR1 proteins acts on different tissues until your body is made up of primarily bone (besides your organs). Death is usually caused by complications due to the disease, like restricted lung use from growths on the ribs.
This disease is caused by a genetic mutation of the ACVR1 gene. The ACVR1 gene is located on chromosome 2 and creates the protein that is responsible for bone growth and development, which also controls turning things like cartilage into bone when you are in the womb and a small child. When the ACVR1 gene is mutated, it changes the shape of a protein receptor, leaving the receptor turned on permanently. This causes your muscle tissue, connective tissue, and other parts of you to slowly ossify (turn to bone) until you eventually become immobile die.
Genetics and Passing of the Disease
Only 1 in 2 million people are affected by this disease, so it is very rare. The disease is autosomal dominant. This means you can get the disease from either parent and you only need one parent to pass the gene to get the disease. Individuals with the disease are capable of having children, and have a 50% chance of having children with the disease. Since the disease is so rare prenatal tests aren't usually done, unless the parent is aware they carry the gene or have the disease, or if a previous child is born with FOP. Most individuals choose not to have more children, if diagnosed or have a child that is diagnosed.
FOP in Medicine Today
Since is such a rare disease, there is not much research being done to find a cure, and as of now there is not one. Different treatments have been tried but none of them have worked, and some have sped up the progression of the disease. Since bone growth is responsive to trauma and the rarity of the disease it is often misdiagnosed, bone samples to test for different diseases worsen bone growth. There isn't any prevention for the disease other than abstinence of individuals who already have it. Medical assistance for people with FOP includes help with bathing, walkers, wheel chairs and any other assistance needed for people who are immobile.