Fibrodysplasia Ossificans Progressiva (FOP): Turns Muscle Tissue Into Bone

[Anonymous]

Does anyone know the name of the syndrome in which muscles, when damaged, are converted into bone?

 

[rossba1]

Is it ankylosing spondylitis? Or is that just bones fusing together?

 

[Anonymous]

I don't know. Since I never even did 'O' level biology my medical knowledge is limited to items gleaned from the news and documentaries! This particular syndrome was the subject of a Horizon documentary about 18 months ago, and was probably one of the most disturbing things I've seen.
It's a rare syndrome, but the nub of it was that if the sufferer sustained any muscular damage (e.g. moderate bruising) then their white blood cells began to treat the damage but somehow got confused and replaced the muscle tissue with bone tissue. And it wasn't just restricted to the area of damaged - the entire muscle was replaced by bone, thereby rendering the limb pretty useless. It was very weird.

 

[TheBeast17]

Nondescript,

The condition is called Fibrodysplasia Ossicicans Progressivais or FOP.

It can be triggered by almost anything, a knock or fall, and the damaged muscle begins to literally become bone. People who suffer from this condition slowly start to freeze, until they can't move a muscle. They have to decide whether they will finish in a sitting position or a standing one. Must be a terrifying ordeal.

Find more info. on it here:

FOP

 

[Anonymous]

Cheers, now I know who to direct my medical questions at in future!

Scary stuff though. Reading about all the strange things that can happen to a person makes me think twice about having kids at all...

 

[EnolaGaia]

The first wide-ranging survey of patients suffering the one-in-a-million FOP disease has been completed and reported.

Researchers 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. ...

FULL STORY: https://www.sciencealert.com/researchers-track-an-ultra-rare-disease-that-turns-muscle-to-bone

RESEARCH REPORT (In Press; Complete): https://www.gimjournal.org/article/S1098-3600(22)00904-2/fulltext