Bone forms outside the skeleton, regulating movement. The process of Fibrodysplasia Ossificans Progressiva usually becomes noticeable in the early stages of childhood. The process usually starts with the upper neck and works its way down the body, and into the limbs.
Fibrodysplasia Ossificans Progressiva is caused by a mutation in the ACVR1 gene. This gene provides directions for constructing a part of a protein group called bone morphogenetic protein. This protein is found in many tissues, as well as muscles and cartilage. ACVR1 helps control the development and growth of the bones and muscles. Researchers believe that a mutation may change the shape of the receptor, disturbing the mechanisms that control the activity, causing overgrowth of bone and cartilage.
The formation causes loss of mobility in the joints. You are unable to walk, stand, or move any ligaments. You are unable to open the mouth fully, which makes it difficult for you to talk and eat. The inability to eat regularly, usually causes malnutrition problems later on. They also have problems breathing because of the extra bone near the ribs. Encountering any sort of trauma, such as falling, or any sort of procedure may cause swelling and inflammation. These types of traumas will cause more bone to form making the case even