Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and incapacitating genetic disorder characterized by extensive and progressive bone formation in the body's soft tissues, such as muscles, tendons, and ligaments. This progressive transformation of soft tissue into bone occurs spontaneously with no known cause or triggering event.
People with FOP develop abnormal bone structures, known as heterotopic ossification, in response to trauma or injury, even minor ones such as a bruise or a fall. This abnormal bone growth can lead to the formation of a second skeleton, effectively restricting movement and causing severe disability. Over time, affected individuals may become confined to a wheelchair or lose the ability to move certain joints altogether.
The symptoms of FOP usually appear in childhood, with the most common presenting feature being the development of malformed big toes. As the disorder progresses, additional joints including the spine, neck, shoulders, and hips can become involved, leading to further limitations in mobility. Surgical intervention to remove the extra bone formation is generally discouraged as it often triggers uncontrollable and more extensive bone growth.
FOP is caused by a mutation in the ACVR1 gene, which plays a vital role in regulating bone and muscle development. This gene mutation leads to the overactivity of a certain protein, causing a disruption in the body's normal bone formation and repair processes.
Currently, there is no cure for FOP, and treatment mainly focuses on managing the symptoms and preventing the progression of the condition. Proper diagnosis and early intervention by healthcare professionals specialized in FOP can significantly improve the quality of life and provide support to affected individuals and their families.
