What is FOP disease?

What is FOP disease?

General Discussion. Fibrodysplasia ossificans progressiva (FOP) is a very rare genetic connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and skeletal muscles.

What are the symptoms of fibrodysplasia ossificans progressiva?

Symptoms of FOP include:

  • malformations of the big toe.
  • spontaneous flare-ups of inflammation or soft tissue swelling.
  • increased flare-ups after injury, viral illness, or immunizations.
  • difficulty moving.
  • frequent injury due to falling.

What is the prognosis for fibrodysplasia ossificans progressiva?

The prognosis for fibrodysplasia ossificans progressiva (FOP) is poor because of the involvement of thoracic muscles and restrictive lung disease. Most fibrodysplasia ossificans progressiva patients are bedridden by the time they are in their 30s, and they usually die before they reach age 40 years.

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Is there a cure for Stone Man Syndrome?

Unfortunately, there is no effective treatment for fibrodysplasia ossificans progressiva (FOP). Surgery is not an option for removing the excess bones because surgery often results in more bone formation. And these new bones don’t disappear on their own.

Is there any cure for FOP?

Currently, there is no cure for FOP. Courses of high-dose corticosteroids at the start of a flare-up can reduce some of the symptoms of the condition.

Is Stone Man Syndrome fatal?

The presence of malformed toes or thumbs in those born with FOP help distinguish this disorder from other skeletal problems. With proper medical management the median age of survival is 40 years.

Is Stone Man Syndrome curable?

FOP is a rare and disabling disorder that still does not have an effective treatment that can cure it or stop its progression. Mainly, physicians, surgeons, and patients and their families should be educated about the disease, and proper counseling of families should be provided.

How do you get fibrodysplasia?

Inheritance. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene.