What is fibrodysplasia osifificans progressive?
Fibrodysplasia osifificans is a genetic disorder that affects connective tissue. The main consequence of this disorder is heterotopic ossification, the development of bony tissue in places where bones are not present in a healthy body. Such locations include muscles, tendons and ties. The first symptoms of fibrodysplasia osifificans are usually evolved in childhood and the disease proceeds throughout the life of an individual. It is an extremely rare disorder with a global frequency of one out of 2 million. The only abnormality present in almost all cases is the deformity of large fingers in which the fingers are much shorter than usual and have bony lumps similar to the bony near the base base. The presence of this tip abnormality at birth is considered to be defining the diagnostic characteristics of the disorder.
In general, progressive symptoms begin to appear when the child is approaching adolescence. The first symptoms are painful swelling of soft tissues that worsen by injury or viral diseases. INOver time, swelling becomes more numerous and existing swelling becomes heavier because soft tissues gradually turn into bones. The joints solidify and movement becomes difficult and painful. People with this condition gradually lose mobility during the disease and most of them require a wheelchair or other aids in the third decade of life.
loss of mobility is not necessarily the most weakening consequence of this disorder, because of the connection of soft tissue in all parts of the body except those involved in motion. For example, muscles and connective tissue in the thoracic wall may be disturbed due to bone growth. This can lead to acute or chronic pneumonia and heart failure.
Basic cause of fibrodysplasia osificans progressive is a mutation in a gene called ACVR1 that encodes protein known as the type of activin-1 receptor. This mutation changes the shape of the receptor and causes its failure. As a result, the duckSoft tissue causing causes bone to be stored during the body repair process. That is why injuries can not only cause new swelling, but also worsen the existing. Viral disease plays a role in the development of abnormal bone tissue, as the immune system causes inflammatory reactions that can also cause tissue damage.
Fibrodysplasia osifificans is an incurable disorder, but some medicines can help reduce the speed of bone storage in the body. Corticosteroids are the main drug used to achieve this goal. The short course of high -dose corticosteroids can be administered when the symptoms of the failure are flared. By reducing inflammation in the body, this treatment can reduce the amount of bone depoponition that occurs. Other medicines that could be used include painkillers and muscle relaxants, reducing pain and muscle cramps.