Fibrodysplasia ossificans progressiva is very rare and is dangerous. FOP is bone growth over regular skeletal bone (ORPHAN). Proteins are involved as it is a genetic mutation. There are medicines to help aid the process. The skeletal system is affected and eventually inner parts are as well. It is manageable, but incurable. Precautions are available to help lower the risk of flare- ups (ifop).
Fibrodysplasia ossificans progressiva is a rare genetic mutation. The mutation occurs on the “Activin A receptor type I/Activin-like kinase 2 (ACVR1/ALK2)” (orphanate journal). This gene is accountable for producing the activin receptor type 1 protein. The protein is part of the bone morphogenetic protein type 1 receptors (genetic home reference). The …show more content…
Full bone starts presenting on the outside of the body and in between other bones (ifopa). No organ system is directly affected due to the nature of the smooth muscle, as well as cardiac mucle (ojrd). Flare- ups, or growth of the new bone, is random and highly unpredictable (ifopa). Sometimes, the flare- ups are caused by viruses, or injuries, such as surgeries or falls (ghr). Parts of the skeleton are directly affected, such as the spine, shoulders, ribs, and joints. The first signs of FOP are small, deformed big toes, along with deformed thumbs. The neck may be short but the spine may be elongated. After a while, joints in the spine may fuse together or growth of bone over ligaments or muscles can lead to eventual immobility (orphaned). Typically, extra bone growth starts with the middle bones, the chest, shoulders, and spine, then grows between knees, elbows, and other joints (ifop). Eventually, FOP can lead to deafness as bone grows around the cochlea, and then limited to no jaw movement (orphonet). After a while, the patient will undergo severe weight loss due to the loss of jaw movement and inability to eat. As the joints begin to fuse, the patient will experience stiffness or total movement loss. They may become wheelchair bound …show more content…
It is incurable, but manageable. There are medications to help relieve the pain of flare- ups, such as muscle relaxants and painkillers, but nothing to fully stop the new growth of bone. Removal of the new bone is dangerous, as surgeries can lead to bone regrowth (ifop). Corticosteroids are used to help boost the immune system, which could possibly lead to less inflammation. Muscle relaxants could potentially help with muscle spasms, therefore allowing flare- ups to be less destructive. Side effects still pose a threat, though, as with any patient (GHR). In children, physical activity should be limited to prevent injury. Caution should be taken into account in daily activities, such as preventing falls and head protection. Injections of any kind should be avoided and dental needs should be handled with extreme care