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Anonymous
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Does anyone know the name of the syndrome in which muscles, when damaged, are converted into bone?
FULL STORY: https://www.sciencealert.com/researchers-track-an-ultra-rare-disease-that-turns-muscle-to-boneResearchers Track an Ultra-Rare Disease That Turns Muscle to Bone
A three-year-long study has tracked dozens of patients with an ultra-rare disorder that gradually turns muscle, tendons, and ligaments to bone.
The lifelong, irreversible condition is known as fibrodysplasia ossificans progressiva (FOP). While estimates on its prevalence vary, confirmed cases occur in roughly one out of every 1 to 2 million births.
Only about 800 patients have been diagnosed with FOP worldwide, and in 2006, it was found that 97 percent of patients harbor the same genetic variant of the disease.
This mutation occurs in a gene that codes for a receptor regulating bone development, seeming to cause stem cells to produce bone tissue in places that typically shouldn't have it.
Given the severity and rarity of FOP, it's hoped the findings of the current research will allow doctors to better meet the medical needs of underserved patients.
The progressive calcification of soft tissue from FOP isn't constant; it comes in waves. The episodes usually begin in childhood and tend to start in the neck and shoulders, causing ribbons, sheets, and plates of bone to form.
Spanning joints and articulations, the rigid tissue progressively limits mobility, locking body parts into place and reducing the lifespan of those affected.
Not everyone with FOP shows the same rate of calcification, but once bone is laid down in a part of the body, it is permanent. Most people require a wheelchair by the age of 20.
Unfortunately, today, there are no available treatments for FOP, although the pain and swelling experienced by patients can be somewhat alleviated with medicine. ...