Fibrodysplasia, ossifying, progressive
Newborns with FOP look absolutely normal, not counting the skeletal defect - the wedge-shaped deformation of the fingers and toes. With a probability of 95%, the disease is diagnosed by inward-curled big toes, in some cases there is a shortage of joints. Another characteristic feature is the pathology of the vertebrae of the cervical spine.
The disease is characterized by sharp exacerbations, the specific causes of which remain undetected. The most common subcutaneous seal from one to ten centimeters, the nature of which is difficult to determine. The formation of such seals is often provoked by injuries and even minor bruises, and, as a rule, is accompanied by fever. There is no response to drugs. At the initial stages, the symptoms of FOP are often attributed to oncology and they try to solve the problem through surgical intervention, which only provokes active ossification of the tissues.The rapid development of the disease ultimately leads to disability and early death of the patient.
FOP symptoms originate from the muscles of the head or back, often from the paravertebral part, gradually moving through the abdominal and femoral parts to the periphery of the body. It does not affect the diaphragm, tongue, and eye muscles. Heart and smooth muscles are not exposed to ossification.
FOP occurs with a frequency of 1 per 2 million people and is characterized by individuality, unpredictability of the flow. Various studies in this area still do not allow to predict when and how the disease manifests itself. Any recorded private success in dealing with the disease turns out to be completely untenable when trying to test them on another patient. At the moment there are no specific forms of prevention and treatment of FOP.
Perspective is gene therapy. Gene mutation blockers are being actively developed.
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