Marble disease

Marbled bone disease is a rare genetic disorder that causes hard, brittle bones that can lead to serious damage and even death. It was first described in 1934 and named after the Italian pathologist Giuseppe Albers-Schoenberg.

Marble disease manifests itself in the form of fossilization of bones, which can lead to deformation of the limbs and spine. It can also cause breathing and heart problems and other complications.

Treatment of marble disease includes surgical operations aimed at removing the affected areas of bone and replacing them with artificial materials. You may also need to take medications to reduce pain and improve your overall health.

It is important to note that marbled disease is a hereditary disease, therefore, to prevent it, it is necessary to conduct genetic analysis in future parents. If any family members have this disease, they should see a doctor for consultation and examination.

Overall, marbled disease is a serious condition that can lead to disability and death. However, thanks to modern treatment methods, many people with this disease can live full lives.

Marble disease is a hereditary disease that is characterized by excessive accumulation of calcium salts in the bones, which leads to their deformation and fragility. It occurs due to a mutation in the gene that is responsible for calcium metabolism in the body. The heredity of the disease can be either autosomal dominant or autosomal recessive.

Symptoms of marbled disease can appear already in the first years of a child’s life and gradually intensify over time. The main manifestations of the disease are increased bone fragility and skeletal deformation. Patients may have characteristic "marble" or "bone" fingers and toes, as well as abnormalities in the growth and development of other organ systems.

Treatment for marbled disease is complex and includes drug therapy, surgery and physical therapy. Drug therapy is aimed at reducing the amount of calcium that accumulates in the bones. Surgical procedures may include removal of calcified areas of bone