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Unusual Diseases: Stone Man Syndrome

The stone man’s syndrome in medicine is called progressive ossifying fibrodysplasia, or Müncheimer’s disease. This is a genetic pathology that is caused by a mutation of the gene responsible for bone formation. Its essence lies in the fact that the patient ligaments and muscles turn into bones, as a result, a person ossifies or stiffens. Hence the name – stone man syndrome.

This disease is known since the end of the XVII century, then it was first described. The disease is extremely rare. Now, according to various sources, there are 600, 800 or 2500 patients in the world.

Causes of disease
Genetic disorders in the ACVR1 gene, which is associated with the protein that forms the bones, lead to the disease. Moreover, cases of the disease are most often isolated in the family and appear unexpectedly. This is explained by the fact that patients, as a rule, do not have children: either they are incapable of conception, or do not live to adulthood, or women cannot give birth, since births are deadly for them.

The disease may not manifest for a long time, and injuries, inflammations, infectious diseases, and surgical operations become the impetus for the development of the disease.

Manifestations of stone man syndrome
In newborns, the disease does not manifest in any way. The only sign on which it is possible to suspect that something was wrong is a large, curved inside of the toe, there may also be no joint on it.

The first symptoms may appear in childhood. This is a painful seal under the skin on the head, neck, upper back, in those places where there were minor injuries (scratches, bruises). Gradually, they ossify, grow together with each other or with nearby bones. Often they are mistaken for malignant tumors, they begin to heal, which contributes to the development of the disease. The consequences of the disease are scoliosis and torticollis.

In adults, seals appear throughout the body with the slightest damage. It is enough to give a shot or an insect bite, and the tissue in this place swells, starts to ache, and then a bone formation is formed.

In some cases, the disease proceeds with periodic exacerbations, after which it does not manifest itself for several years. But more often the disease has a progressive nature.

As a result, all muscles get stiff, except for the heart muscle, the diaphragm, the muscles of the tongue and the eyes.

Due to the coalescence of the bones, the person becomes restricted in movement, a hump forms in him, sometimes a second skeleton is formed, and then the patient is completely immobilized.

If splicing of the jaw begins, there are difficulties with eating, with speech.

During the formation of bone formations in the chest, respiratory failure may occur, which, along with pneumonia, is most often the cause of death of the patient.

As a rule, people suffering from stone man syndrome live no more than 40 years.

Diagnosis and treatment
It is difficult to diagnose stone man syndrome, first of all, because it is a very rare disease. Most often, the correct diagnosis is made 2-3 years after the onset of the disease using fluoroscopy. You can confirm it by conducting a genetic analysis.

The disease today is incurable. Patients should be protected from injuries, bruises, infections, hypothermia, avoid active sports. However, there is hope. Currently, scientists are conducting clinical studies of a means to block a mutant gene that will help people with these disorders.

 

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