Stone Man's Disease, A Disorder That Turns Muscle Into Bone

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Stone Man's Disease, A Disorder That Turns Muscle Into Bone
Stone Man's Disease, A Disorder That Turns Muscle Into Bone
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Stone man's disease is a rare condition that causes the muscles and connective tissue of the body to slowly harden like stone. This disease causes the sufferer to lose the ability to move gradually

Stone man's disease or sometimes also called stone man's syndrome is a disease that occurs due to genetic disorders. This condition can cause the muscles and connective tissues of the body, such as ligaments and tendons, to gradually become hard like bone. In medical terms, this disease is called fibrodysplasia ossificans progressiva (FOP).

Stone Man's Disease, A Disorder That Turns Muscle Into Bone - Alodokter

The Cause of Stone Man's Disease

Children generally have a gene that can turn cartilage into bone. In normal genes, this development will stop in accordance with the time, precisely when the child grows up. However, this does not occur in patients with stone man's disease.

Stone man's disease is caused by a genetic mutation in the ACVR1 gene. The ACVR1 gene is one of the genes that control the growth and development of bones and muscles.

This genetic disorder causes bone growth to become abnormal and uncontrollable. As a result, bone grows outside the skeleton and replaces connective tissue such as tendons, muscles, and ligaments. As a result, muscles and body tissues that should be flexible and soft will harden because they are replaced by bone tissue.

This rare disease can be passed down from parents to their children. However, in some cases, stone man's disease sufferers do not have a family history of the same disease, either in their parents or siblings.

Signs and Symptoms of Stone Man's Disease

Stone man's disease is a very rare disease and only affects about 1 in 2 million people in the world. Until the end of 2019, there were around 800 cases of stone man syndrome worldwide. A total of 285 cases occurred in the United States.

The symptoms of this disease can be known since the sufferer was still a child. Even so, symptoms can appear at any time, even when the sufferer is a teenager. The following are signs and symptoms of stone man's disease:

1. Deformed toes

The hallmark of this disease is abnormalities in the toes. Patients with stone man's disease are generally born with toes that are larger than normal. In addition, one or both big toes can also look very short and crooked.

2. Lumps on certain body parts

Another sign of this disease is the appearance of lumps like tumors on the back, neck, and shoulders. This lump is a sign that the soft bone tissue is starting to turn into bone.

These lumps grow quickly and are painful. These lumps that turn into bones will spread throughout the body and last a lifetime.

3. Muscle stiffness

When body tissue begins to harden into bone, stone man's disease sufferers will experience stiff muscles and joints. This can make it difficult for them or even completely immobilized.

4. Pain in certain body parts

When this disease begins to appear, sufferers will usually feel pain in certain body parts, such as in the neck and shoulders. The pain can be felt throughout the body and sometimes accompanied by swelling.

In addition to the above symptoms, stone man's disease sufferers may also experience other symptoms in the form of general discomfort and low-grade fever. Some of the above symptoms can last for 6-8 weeks until lumps and body tissues turn into bone.

The appearance of symptoms of stone man's disease can be triggered or exacerbated by certain factors, such as injury and viral infections, such as influenza. This condition can cause inflammation that makes the muscle tissue of stone man's disease sufferers turn into bone faster.

The Impact of Stone Man's Disease

The impact felt by stone man's disease sufferers depends on which part of the body is hardened because of the extra bone. Until now, the stone man's disease has not been cured.

This condition often makes sufferers experience various other he alth problems, such as:

Malnutrition

Patients with stone man's disease can have difficulty speaking and eating, which can lead to weight loss due to malnutrition or malnutrition. This happens because of the limited movement of the mouth and jaw due to the muscle and connective tissue in that area has turned into bone.

hearing loss

Formation of additional bone on the inside of the ear can cause hearing loss in the form of conductive deafness. This is because the ossicles in the eardrum become too hard and stiff.

Difficulty breathing

Changes in muscle tissue and connective tissue in the chest and around the ribs can limit the performance of the lungs. This can make stone man's disease sufferers often experience shortness of breath or difficulty breathing.

In addition, because the respiratory tract is stiff, stone man's disease sufferers are also more susceptible to infections in the respiratory tract, such as the nose, throat, and lungs.

Hard or unable to move

Stone man's disease can also often cause the sufferer to become paralyzed because his body's muscle tissue hardens and stiffens.

Many stone man's disease sufferers have to live with assistive devices, such as wheelchairs, all their lives. Some sufferers can't even get out of bed permanently.

Spine disorders

In some cases, this stone man syndrome causes sufferers to experience severe scoliosis disorder. Gradually, the sufferer will have difficulty in carrying out daily activities, such as standing, walking, or when he wants to sit.

In addition, people with this disease are at a higher risk of heart failure due to bone growth which makes the heart muscle weaken. Lumps that are increasingly spreading and turning into bones will limit body movement and cause balance disorders.

Stone man's syndrome can also be very dangerous if it occurs during pregnancy, because it can increase the risk of complications for the mother and fetus.

Stone Man's Disease Treatment

If you experience symptoms of stone man's disease, immediately consult a doctor. To confirm the diagnosis, the doctor will perform a series of examinations, including a thorough physical examination and supporting examinations such as blood tests, CT scans, X-rays, and genetic tests.

This disease can't be prevented and can't be cured. Medications and treatments are carried out only to relieve symptoms, prevent new bone formation, and improve the patient's quality of life.

If the results of a medical examination from the doctor show that you suffer from stone man's disease, the doctor can provide treatment in the form of:

Medications

To reduce symptoms and slow the course of the disease, doctors can give drugs, such as corticosteroids. This drug also works to reduce inflammation and swelling in the body so that body tissue does not turn into bone faster.

In addition, doctors can also give pain relievers to relieve pain and muscle relaxants to relieve the symptoms of muscle stiffness.

Physiotherapy and occupational therapy

Occupational therapy can be in the form of physical exercise or exercise to help sufferers to be able to perform daily activities independently, such as eating, walking, or wearing clothes. Occupational therapy can also be done to guide the patient to get used to using assistive devices.

In addition to occupational therapy, doctors may also advise patients to undergo physiotherapy to reduce damage to body tissues and relieve symptoms.

In addition to the above steps, the doctor may also suggest the use of a breathing apparatus if the stone man's disease sufferer has difficulty breathing due to muscle stiffness in the chest and around the lungs. This is important to prevent the patient from experiencing respiratory failure.

There is no medical action that can eliminate or stop the growth of new bone in cases of stone man's disease. Surgery to remove new bone cannot be done because it will only make the condition worse, by triggering the formation of more new bone.

In addition to surgery, certain medical procedures such as a biopsy or giving injections of drugs or immunizations in muscle tissue also need to be avoided. This is because this action can trigger the growth of new bone that will spread to other areas more quickly.

Stone man's disease can't be cured, but its symptoms can be alleviated. In addition, treatment from doctors is also important to prevent patients from experiencing complications or other he alth effects due to stone man's disease. Therefore, consult a doctor if you experience symptoms of this disease.

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