SIGNS AND SYMPTOMS

        The main symptom of fibrodysplasia ossificans progressiva (FOP) is the gradual replacement of muscles, tendons and ligaments into bone (heterotopic ossification). This process begins at the neck and shoulders in early childhood and progresses throughout the body over time. The development of bone can be rapid in some cases, or very slow in others. Each case is unique.

        Symptoms arise during flare-ups, which are your body’s reaction to trauma that could be from an injury, surgery or viral illness like the flu. Swelling, or an increase in size or shape of a part of the body, can be painful. When flare-ups occur, the bone morphogenic protein type 1 receptors fail to stop producing proteins, which causes new bone to form on muscles, tendons and ligaments. After new bone forms, swelling decreases, which could take anywhere from a few days to a month.

        A symptom of the condition that leads to an FOP diagnosis is a malformed and short, big toe that sometimes grows inward and over the second toe. Growth differences of the big toes are visible at birth, even before other symptoms appear. Nearly 50% of cases of FOP also have malformations of the thumbs similar to the big toe.

Symptoms of fibrodysplasia ossificans progressiva include:

· Bone forming on muscles, ligaments and connective tissue.

· Decreased mobility (scooting instead of crawling, joint stiffness, locked joints).

· Difficulty eating or speaking.

· Hearing impairment.

· Malformed big toe.

· Permanent immobility.

· Red to purple, painful and hot to the touch areas of the body that look like tumors.

· Scoliosis or kyphosis.

· Swelling of soft tissue on the neck, shoulders and back.

        As the condition progresses, people diagnosed with FOP may permanently lose the ability to move. They may experience pain and stiffness caused by bone growths that pinch nerves. At this point in a person’s diagnosis, they may be more susceptible to respiratory infection or heart failure.

        In severe cases of FOP, people might experience challenges with their cognitive function and ability to learn.

Reference: 

Fibrodysplasia Ossificans Progressiva. Cleveland Clinic. Retrieved from https://my.clevelandclinic.org/health/diseases/24476-fibrodysplasia-ossificans-progressiva#:~:text=Symptoms%20of%20fibrodysplasia%20ossificans%20progressiva%20include%3A%20Bone%20forming,%28scooting%20instead%20of%20crawling%2C%20joint%20stiffness%2C%20locked%20joints%29.