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The ossifying progressing fibrodisplaziya


Fibrodisplaziya ossifying progressing (an ossifying miositis, paraossalny heterotopic ossification, Myunkheymer's disease) — the most rare disease (1 diseased on 2 000 000) resulting a mutation of a gene of ACVR1, and which is shown inborn defects of development — first of all the bent thumbs of feet and disturbances in cervical department of a backbone at the level of vertebrae s2 — s7.

Symptoms of the Ossifying progressing fibrodisplaziya:

The children born with Fibrodisplaziya differ in characteristic pathology of a thumb of a leg - a clinodactyly — it is as if bent inside and sometimes in it there is not enough joint. This finger also gives 95% probability of a disease at the child. Also the disease is characterized by aggravations, as a rule, without the visible reasons. Aggravations happen several types, the most widespread — emergence under skin of the child of consolidations from one to ten centimeters in size of indefinable character, on a neck, a back, forearms aged up to 10 years, in any other place at more advanced age. One of signs is hypostasis of soft tissues of the head, as at insignificant damage (a bruise, sting, scratch), and at severe injuries. Hypostasis does not fall down about one month, does not react on any medicamentous therapy. On site consolidations there can be ossifications, it does not need in any treatment and does not give in to any drugs. The disease is often confused to cancer and other diseases, similar hardenings try to delete that leads to even more rapid growth of "excess" bones, and is the main reason for an invalidism having this disease at the moment.

Клинические проявления оссифицирующей прогрессирующей фибродисплазии

Clinical manifestations of the ossifying progressing fibrodisplaziya

The reasons for the Ossifying progressing fibrodisplaziya:

The disease belongs to inborn hereditary pathology with autosomno - a dominant mode of inheritance. It is characterized by steadily progressing current, leads to considerable disturbances of a functional condition of a musculoskeletal system, deep invalidism of patients and their premature death, and is preferential at children's and young age. The basis of a fibrodisplaziya is made by formation of inflammatory processes in sinews, ligaments, fastion, aponeuroses and muscles that finally leads to their calcification and ossification.

Treatment of the Ossifying progressing fibrodisplaziya:

Now there is a work on gene blockers of a mutation in ACVR1/ALK2 gene. In April, 2011 scientists of Thomas Jefferson University published work on use of retinoic acid for treatment of heterotopic ossification to laboratory mice. Drug showed the effectiveness both in genetically caused and in posttraumatic ossification. According to forecasts of the leading American geneticists (in particular according to professor of genetics Victor Makkyyuzik) before experimental treatment of the person 3 - 5 years of laborious scientific research are necessary. The gold standard for all researches of new drug — a triple blind cross method using placebo, but it will be rather difficult to conduct such researches at FOP, in view of the small number of patients with a disease in already developed stage, an ambiguous pathogeny of a disease, and also a big difference in manifestations of aggravations at patients. In view of the fact that the fibrodisplaziya is extremely rare disease, with different weight of manifestations, to experimental methods of treatment when they appear, it is necessary to pass serious assessment regarding a dosage and duration of a course.

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