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Stone Man Syndrome: How do bones grow within muscles?
Stoneman syndrome, whose full name is Fibrodysplasia Ossificans Progressiva (FOP), is an extremely rare connective tissue disease. In this condition, fibrous connective tissue such as muscles, tendons, and ligaments abnormally transforms into bone tissue, ultimately affecting the patient's ability to move. The medical community generally believes that this is the only disease that causes one organ system to transform into another, and it has no cure. Whether in terms of clinical symptoms or genetic mechanisms, FOP confuses scientists and doctors.
FOP is caused by mutations in the ACVR1 gene. This mutation affects the body's repair mechanism, causing fibrous tissue to fail to heal normally and instead turn into bone.
Progressive symptoms
According to current medical findings, FOP often appears in childhood, especially before the age of ten. Many children born with FOP often have deformed big toes, sometimes even missing a joint. The symptoms progress in a top-down order, that is, new bone begins to grow in the neck, shoulders and upper limbs, eventually affecting the function of the feet. This ossification phenomenon, called heterotopic ossification, can lead to joint fusion as the disease progresses, causing the patient to gradually lose mobility.
Even minor trauma to the patient may trigger rapid ossification, causing originally healthy tissue to be replaced by new bone, creating a permanent connection.
In addition, the disease is also characterized by the sudden appearance of lumps, which is an indicator of worsening disease. Loss of function may involve many joints and even affect the ability to speak and breathe because newly formed bone limits the expansion of the chest cavity.
Cause analysis
FOP is caused by a mutation in an autologous dominant gene located on chromosome 2. Although most cases occur spontaneously, some patients may inherit the mutation. Relevant mutations lead to abnormal function of the ACVR1 gene, which is normally involved in bone formation signaling in the human body. The mutation causes the gene to spin out of control, mistakenly inducing muscle and connective tissue to turn into bone.
The ossification process caused by this mutation is extremely rare, and the incidence of FOP is 1 in 2 million worldwide.
Diagnosis and misdiagnosis
The diagnosis of FOP usually relies on radiological examinations, and early imaging diagnosis is crucial because inappropriate invasive examinations, such as biopsies, may accelerate the progression of the condition. Doctors need to take special care to avoid misdiagnosing FOP as cancer or other benign structures, as prompt detection is key to preventing the spread of the disease.
Treatment strategies
There is currently no cure for FOP, and treatment focuses on managing symptoms and delaying the disease. For example, anti-inflammatory drugs can be used to relieve inflammation caused by an exacerbation of the condition. In addition, the latest research focuses on anti-Sense therapy, which targets the mutated ACVR1 gene and is expected to become a breakthrough in the treatment of FOP in the future.
Although surgery is often ineffective in the treatment of FOP patients and even causes severe bone formation, some medically necessary surgeries still need to be performed with caution.
Prospects and final thoughts
To date, there are approximately 800 confirmed cases of FOP worldwide, making it a rare disease. As more understanding and research develop about this disease, more effective treatments may be found in the future. When we are faced with such a rare disease, how can both the medical community and the general public work together to improve awareness and support for this type of disease?
