A 14-year-old girl from Sichuan province who’d complained about having stiff ankles was diagnosed at a Shanghai hospital on Monday as having an extremely rare disease that causes fibrous tissue to turn into bone.
Doctors at Tongji Hospital said that the teenager, Ni Min, suffered from fibrodysplasia ossificans progressiva (FOP), also called Stone Man Syndrome, a condition so rare there are only 600 known cases in the world.
The disorder, caused by a mutation of the body’s repair mechanism, results in patients’ muscles, tendons and ligaments becoming ossified. Injuries can cause the joints to become completely frozen, and surgery to remove the extra bone growth is impossible, as it results in the body attempting to “repair” the damaged area with more bone.
Tongji’s Dr Zhang Keqin said patients with FOP usually die in their 40s, when the pressure on their lungs becomes too much and they can no longer breathe. He said that Ni’s condition is not yet too serious and treatment should be able to delay the deterioration.
“The results should be seen in six months, when she’ll come back for a checkup,” he told Shanghai Daily.
A new medicine for treating FOP is currently under trial in the US, and is expected to hit the market next year.