Progressive ossifying myositis (fibrodysplasia, FOP) is a disease in which muscles and joints slowly turn into bone, leading to body immobilization and disability. What are the causes and symptoms of progressive ossifying myositis? What is the treatment?

Progressive ossifying myositis(progressive ossification of muscles,fibrodysplasia ,FOP,Münchmeyer disease ) is a very rare connective tissue disease that is genetically determined. Its essence is the production of bone mass in muscles, ligaments, tendons, joints and joint capsules. New bone elements can merge with normal skeletal elements or form discrete structures, leading to body immobilization and disability.Progressive ossifying myositis

Progressive ossifying myositis (fibrodysplasia, FOP) - causes

The disease is caused by a genetic defect that leads to the overproduction of the BMP.webp4 protein, which is involved in the regulation of bone growth. It happens very rarely, as the incidence of the disease is estimated at 1 in 2 million people.

Progressive ossifying myositis (fibrodysplasia, FOP) - symptoms

The first symptoms of the disease appear most often in the first 10 years of life. These are painful swellings of soft tissues that then ossify - most often around the spine, shoulder and hip girdles ( although the disease can also affect other parts of the body). Hard, painful bumps appear then (these are bone forming), which lead to the immobilization of certain parts of the body. In the advanced stage of the disease, almost the entire body is immobilized, the patient freezes in one position.

The body of a person with FOP turns into a statue with age, "becomes stone".

The disease is relapsing, i.e. new, pathological bones are formed from time to time. The risk of their occurrence is significantly increased by injuries (e.g. falls, injections) and surgical procedures. For example, ossification can occur after vaccination. Then, at the site of its injection, induration, a lump may appear, and the arm may become immobilized.

The disease may also be suggested by congenital defects of the hands and feet, such as:

Injuries lead to bone formation in muscles and joints, therefore the patient should absolutely avoid them.

  • shortening and valgus of the toes
  • shortening thumbs
  • fusion and incomplete formation of fingers and toes
  • painful swelling of the soft tissues

Another symptom that is typical of FOP is hearing impairment. There are also complications in the form of upper respiratory tract infections (e.g. pneumonia).

Progressive ossifying myositis (fibrodysplasia, FOP) - diagnosis

If FOP is suspected, MRI and genetic tests are performed.

Progressive ossifying myositis (fibrodysplasia, FOP) - treatment

Only about 600 people in the world suffer from progressive ossifying myositis. For this reason, not much research is done on this disease. There is also no uniform treatment regimen.

In patients, kinesiotherapy and physical therapy play the most important role. Thanks to it, the patient is able to move around with the help of orthopedic equipment and to some extent perform basic daily activities. In addition, painkillers are given. It is impossible to perform a surgery that involves the removal of bone masses, because it results in an even greater and more intense growth of bone tissue in the areas covered by the procedure.

It is also necessary to treat recurrent pneumonia.

Worth knowing

For more information on FOP, visit The International Fibrodysplasia Ossificans Progressiva Association website, an organization that supports research and education about the disease.

Category:

Genetic diseases