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Teenager diagnosed with ‘Stone Man Syndrome’
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A 14-year-old girl from Sichuan Province, whose ankles are stiff and whose muscles are turning to bone, has had her problem diagnosed at a Shanghai hospital.
Doctors at Tongji Hospital said yesterday that the girl, Ni Min, suffers from a condition known as fibrodysplasia ossificans progressiva (FOP), or Stone Man Syndrome.
It is an extremely rare disease of the connective tissue and is caused by a genetic mutation. As a result, the body’s repair mechanism causes fibrous tissue like muscle and tendon to be ossified. Injuries can cause joints to become permanently frozen in place.
There are only 600 known cases around the world and there is no cure.
Dr Zhang Keqin at Tongji said Ni’s condition is progressive and proper treatment can delay the deterioration.
“Her condition is not very serious and we have prescribed medicine for her,” he said.
“The results should be seen in six months, when she’ll come back for a checkup.”
A new medicine for treating FOP is under trial in the United States and is expected to hit the market next year.
“I hope the medicine brings hope to patients,” Zhang said.
“Patients usually die in their 40s when they can no longer breathe because of the pressure on their lungs,” he said.
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