Stone man's disease is a rare condition that makes the muscles and connective tissue of the body slowly harden like a rock. This disease causes sufferers 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 make the muscles and connective tissues of the body, such as ligaments and tendons, slowly become hard as bones. In medical terms, this disease is called progressive fibrodysplasia ossificans.
Causes of Stone Man's Disease
Children generally have genes that can turn cartilage into bone. In normal genes, this development will stop in accordance with the time, precisely when the child is growing up. However, this does not occur in patients with stone man's disease.
Stone man's disease results from 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 uncontrolled. As a result, bones grow outside the skeleton and replace connective tissue such as tendons, muscles, and ligaments. As a result, the muscles and body tissues that are supposed to be flexible and soft will harden because they are replaced by bone tissue.
This rare disease can be passed on from parents to children. However, in some cases, sufferers of stone man's disease do not have a history of similar diseases in their families, both parents and siblings.
Signs and Symptoms of Stone Man's Disease
Stone man's disease is classified as a very rare disease and only attacks about 1 in 2 million people in the world. Until the end of 2019, there were around 800 cases of stone man syndrome throughout the world. A total of 285 cases occurred in the United States.
Symptoms of this disease can be known since the sufferer is still a child. Even so, symptoms can appear at any time, even when the sufferer is growing up. The following are signs and symptoms of stone man's disease:
1. Deformed toes
The hallmark of this disease is a disorder of the toe. Stone man's disease sufferers are generally born with toes that are larger than normal size. In addition, one or both of the 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 such as tumors on the back, neck and shoulders. This lump is a sign that soft bone tissue is starting to change into bone.
This lump grows quickly and feels painful. These lumps that turn into bone will spread throughout the body and last a lifetime.
3. Stiff muscles
When body tissue begins to harden into bone, sufferers of stone man’s disease will experience stiff muscles and joints. This can make them difficult or even unable to move at all.
4. Pain in certain body parts
When this disease begins to appear, sufferers will also usually feel pain in certain body parts, such as the neck and shoulders. The pain can be felt spread throughout the body and sometimes accompanied by swelling.
In addition to some of the symptoms above, sufferers of stone man’s disease may also feel other symptoms in the form of discomfort throughout the body and mild fever. Some of the symptoms above can last for 6-8 weeks until the lumps and body tissue turn into bone.
The appearance of stone man's disease symptoms can be triggered or exacerbated by certain factors, such as injuries and viral infections, such as influenza. These conditions can cause inflammation that makes the stone tissue of sufferers of stone man's disease turn into bone faster.
Impact of Stone Man’s Disease
The impact felt by sufferers of stone man's disease depends on which part of the body hardened due to overgrown with additional bone. Until now, stone human disease can not be cured.
This condition often causes sufferers to experience various other health problems, such as:
Malnutrition
Stone man’s disease can experience difficulty in speaking and eating, causing weight loss due to malnutrition or malnutrition. This happens because of the limited motion of the mouth and jaw due to muscle and connective tissue in the area that has turned into bone.
Hearing disorders
The formation of additional bone in the inner ear can cause hearing loss in the form of conductive deafness. This is because the hearing bones 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 make the performance of the lung organs limited. This can make sufferers of stone man's disease often experience shortness of breath or difficulty breathing.
In addition, because the respiratory tract is stiff, sufferers of stone man’s disease are also more susceptible to infections in the respiratory tract, such as the nose, throat, and lungs.
Difficult or unable to move
Stone man's disease can also often cause sufferers to become paralyzed because the body's muscle tissue hardens and is stiff.
Not a few sufferers of stone man's disease that must live with tools, such as wheelchairs, throughout his life. Some sufferers can't even get out of bed permanently.
Spinal disorders
In some cases, this stone man syndrome causes the sufferer to experience severe scoliosis disorders. Gradually, sufferers will experience difficulty in carrying out daily activities, such as standing, walking, or when they want to sit.
In addition, sufferers of this disease have a higher risk of heart failure due to bone growth which makes the heart muscle weakened. Lumps that increasingly spread and turn into bone will limit body movements to cause disruption of balance.
Stone man's syndrome can also be very dangerous if it occurs during pregnancy, because it can increase the risk of complications for both mother and fetus.
Treatment of Stone Man's Disease
If you experience symptoms of stone man's disease, immediately consult a doctor. To confirm the diagnosis, the doctor will conduct a series of examinations, including a thorough physical examination and supporting examinations such as blood tests, CT scans, X-rays, and genetic examinations.
This disease is actually not preventable and can not be cured. Medications and treatments are only done to relieve symptoms, prevent new bone formation, and improve the quality of life of sufferers.
If the results of a medical examination by a doctor indicate that you suffer from stone man's disease, the doctor can provide treatment in the form of:
Giving medicine
To reduce symptoms and slow down the course of the disease, doctors can give medicines, such as corticosteroids. This drug also works to reduce inflammation and swelling in the body so that body tissue does not turn faster into bones.
In addition, doctors can also provide pain relievers to ease pain and muscle relaxants to relieve symptoms of muscle stiffness.
Physiotherapy and occupational therapy
Occupational therapy can be in the form of physical exercises or exercises to help sufferers to be able to do their daily activities independently, such as eating, walking, or wearing clothes. Occupational therapy can also be done to guide sufferers accustomed to using assistive devices.
In addition to occupational therapy, the doctor may also advise patients to undergo physiotherapy to reduce damage to body tissues and alleviate the symptoms that are felt.
In addition to the above treatment steps, your doctor may also suggest using a breathing apparatus if someone suffering from stone man's disease has difficulty breathing due to stiff muscles in the chest and around the lungs. This is important to do to prevent sufferers experience respiratory failure.
There is no medical treatment that can eliminate or stop the growth of new bone in the case of stone man's disease. Removal of new bone can not be done because it will only aggravate the condition, which triggers the formation of other new bones.
In addition to surgery, certain medical procedures such as biopsy or drug injections or immunizations in muscle tissue also need to be avoided. This is because these actions can trigger the growth of new bone which is increasingly spreading to other areas.
Stone man's disease can not be cured, but the symptoms can be alleviated. In addition, treatment from a doctor is also important to prevent patients from experiencing complications or other health effects due to stone man’s disease. Therefore, consult a doctor if you experience symptoms of this disease.
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