Fibrodysplasia Ossificans Progressiva: Stone Man Syndrome

Fibrodysplasia ossificans progressiva: Stone Man Syndrome

Stone Man Syndrome is painful, debilitating, and extremely interesting to learn about. Stone man syndrome or Fibrodysplasia ossificans progressiva is a disease that causes “formation of bones when tissues like tendons, muscles, ligaments and other connective tissues are damaged”( “Stone Man Syndrome”). It has multiple painful symptoms. It is caused by a genetic disorder that occurs once in every two million people. So far there is no cure for FOP, but there have been advancements in the treatments to slow the disease. The disease is “an autosomal dominant condition… In most cases FOP is a new mutation or an accident of nature” ("Fibrodysplasia Ossificans Progressiva." Fibrodysplasia ).

FOP’s effects “start at birth but bone formation usually begins within the first two decades of life, the majority before the age of ten” ("Working to Raise Awareness and Help Find a Cure."). Some of the first early warning signs are toes, more specifically short big toes that are curved inward, “called a valgus deviation”("Fibrodysplasia Ossificans Progressiva." Fibrodysplasia Ossificans Progressiva"). Another warning sign is that children with FOP “scoot on their buttocks [instead of crawling]” (Vietti ) “Inflamed (and sometimes painful) swellings” are yet another sign of Stone Man Syndrome ("Working to Raise Awareness and Help Find a Cure.").

FOP is caused by a mutation on the “The ACVR1 gene [which,] provides instructions for producing a member of a protein family called bone morphogenetic protein”("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). The disease is a dominant trait which means only “one copy of the altered gene” is needed to inherit the disease ("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). If a parent has the disease, then their is a high chance that their offspring will inherit the disease. Fibrodysplasia Ossificans Progressiva is misdiagnosed an “estimated at 80 percent [of diagnoses done] or higher” ("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). The disease is harder to diagnose because the children “appear normal at birth except for great toe abnormalities” (“Progressive Myositis Ossificans - Conditions - GTR - NCBI.”).

Currently there is no cure for FOP and “there is no effective treatment for fibrodysplasia ossificans progressiva (FOP)” ("Fibrodysplasia Ossificans Progressiva." Fibrodysplasia Ossificans Progressiva"). It is hard to find effective treatments because “surgery often results in more bone formation” and anything invasive would cause