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What is Fibrodysplasia Ossificans Progressiva mean?
Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Münchmeyer disease, is an extremely rare connective tissue disease resulting from a mutation of the ACVR1 gene. It is a severe, disabling disorder with no current cure or treatment. It is the only known medical condition where one organ system changes into another.
Fibrodysplasia ossificans progressiva is caused by a mutation of the gene ACVR1. The mutation affects the body's repair mechanism, causing fibrous tissue including muscle, tendons, and ligaments to become ossified, either spontaneously or when damaged as the result of trauma. In many cases, otherwise minor injuries can cause joints to become permanently fused as new bone forms, replacing the damaged muscle tissue. This new bone formation (known as "heterotopic ossification") eventually forms a secondary skeleton and progressively restricts the patient's ability to move. Bone formed as a result of this process is identical to "normal" bone, simply in improper locations. Circumstantial evidence suggests that the disease can cause joint degradation separate from its characteristic bone growth.
Surgical removal of the extra bone growth has been shown to cause the body to "repair" the affected area with additional bone. Although the rate of bone growth may differ depending on the patient, the condition ultimately leaves those affected by the condition immobilized as new bone replaces musculature and fuses with the existing skeleton.
During flare-ups, some patients have attempted to position their bodies in a way they would prefer to remain in permanently in order to improve their quality of life.
referencePosted on 28 Dec 2024, this text provides information on Miscellaneous in Medical related to Medical. Please note that while accuracy is prioritized, the data presented might not be entirely correct or up-to-date. This information is offered for general knowledge and informational purposes only, and should not be considered as a substitute for professional advice.
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