Stone man's disease or stone man disease is a rare condition in which the muscles and connective tissue of the body 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 It is a disease caused by a genetic disorder. 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).
Reason 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 happen to patients stone man's disease.
Stone man's disease It 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 uncontrolled. As a result, bone grows outside the skeleton and replaces connective tissue such as tendons, muscles, and ligaments. As a result, the 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 from parents to their children. However, in some cases, sufferers stone man's disease does not have a history of similar disease in his family, either in parents or siblings.
Signs and symptoms Stone Man's Disease
Stone man's disease classified as 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.
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: stone man's disease:
1. Deformed toes
The hallmark of this disease is deformity of the toes. Sufferer 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 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, sufferers stone man's disease You will experience muscle and joint stiffness. This can make it difficult or even completely immobilized.
4. Pain in certain body parts
When this disease begins to appear, sufferers will also 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, sufferers stone man's disease You may also experience other symptoms such as general discomfort and a 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 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 patient's muscle tissue weak stone man's disease turn into bone faster.
Impact of Stone Man's Disease
The impact felt by the patient stone man's disease depending on which part of the body is hardened because of the extra bone. Until now, stone man disease can not be cured.
This condition often makes sufferers experience various other health problems, such as:
Malnutrition
Sufferer stone man's disease may have difficulty speaking and eating, leading to weight loss due to malnutrition or malnutrition. This occurs because of the limited movement of the mouth and jaw due to the muscles and connective tissue in the area having 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 bones of hearing in the eardrum become too hard and stiff.
Difficult to breathe
Changes in muscle tissue and connective tissue in the chest and around the ribs can limit the performance of the lungs. This can make sufferers stone man's disease often experience shortness of breath or difficulty breathing.
In addition, because the respiratory tract is stiff, sufferers 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 also often can cause the sufferer to become paralyzed because the body's muscle tissue hardens and stiffens.
Not a few sufferers stone man's disease who has to live with an assistive device, such as a wheelchair, all his life. Some sufferers can not even get out of bed permanently.
Spinal disorders
In some cases, stone man syndrome causes sufferers to develop severe scoliosis. Gradually, sufferers will have difficulty in carrying out daily activities, such as standing, walking, or when they want to sit.
In addition, people with this disease are at higher risk of heart failure due to bone growth that makes the heart muscle weaken. Lumps that are increasingly spreading and turning into bones will limit body movement and cause balance disorders.
Stoneman's syndrome can also be very dangerous if it occurs during pregnancy, because it can increase the risk of complications to the mother and fetus.
Treatment Stone Man's Disease
If you experience symptoms 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 examinations.
This disease can not be prevented and can not 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 a doctor show that you are suffering from stone man's disease, the doctor can provide treatment in the form of:
Administration of drugs
To reduce symptoms and slow the course of the disease, doctors may prescribe medications, 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 (muscle relaxant) 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 carry out 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 sufferer stone man's disease have 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 procedure that can remove or stop the growth of new bone in cases of stone man's disease. Surgical removal of new bone can not be done because it will only worsen the condition, which triggers the formation of other new bone.
In addition to surgery, certain medical procedures such as a biopsy or giving injections of drugs or immunizations to muscle tissue also need to be avoided. This is because this action can trigger the growth of new bone that is rapidly spreading to other areas.
Disease stone man's disease It can't 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 complications stone man's disease. Therefore, consult a doctor if you experience symptoms of this disease.
