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Did you know? The genetic mutation of stone man syndrome actually turns muscles into bones!
In the medical community, there is a rare disease called stone man syndrome, which is scientifically called Fibrodysplasia ossificans progressiva (FOP). The disease has alarming properties as it causes a patient's muscles, ligaments and other connective tissue to transform into bone, a change that completely alters the patient's ability to move and daily life.
Stoneman syndrome is known as "Stone Man Syndrome" because it may cause the patient's body to gradually be replaced by bone, eventually leading to complete loss of movement.
The root cause of FOP lies in mutations in the ACVR1 gene. The mutation in this gene affects the body's repair mechanism, causing muscle tissue that should be repaired and healed to accidentally turn into bone in the absence of injury or obvious trauma. These abnormal bone growths are called "heterotopic ossifications," and one characteristic of them is that they look like normal bones, but in the wrong location.
Signs and symptoms of illness
The first symptoms of the disease usually appear before the age of ten, and it is common for children to be born with deformed toes. In people with FOP, bone growth usually starts in the upper part of the body and progresses downward, with initial ossification usually occurring in the neck, then shoulders, arms, and chest, eventually affecting the feet. This process has a significant negative impact on the patient's quality of life.
For many people with FOP, even minor trauma or injections can worsen the condition and increase ossification in areas of the body.
Genetics and Diagnosis
FOP is an auto-dominant disease, which means that if a parent carries a mutated gene, their children have a 50% chance of inheriting the disease. Regarding diagnosis, early diagnosis of FOP is crucial and the condition is usually confirmed through X-rays. Due to the rarity of FOP, many patients may be misdiagnosed as cancer or other benign lesions in the early stages, exacerbating the condition.
Current treatment and research progress
Currently, there is no cure for Stoneman Syndrome. Nonetheless, the recent approval of a treatment called Sohonos (palovarotene) shows some promise. Other drugs targeting FOP are also being developed on the market, such as selective DNA therapy, which hopes to target and repair the genes that cause ossification.
Five patients with FOP are at higher risk for surgery because surgery can trigger rapid bone proliferation, so surgical treatment is generally not recommended for these patients.
Medical history and epidemiology
Research on Stone Man Syndrome dates back to 1692, marking centuries of development in the understanding of this disease. As of 2017, there were approximately 800 confirmed cases of FOP worldwide, making it one of the rarest known diseases, while its incidence rate is only 0.5 cases per million people and is not specific to a certain race.
Hope and Future Research
With the advancement of science, in-depth research on Stone Man Syndrome continues. Major pharmaceutical companies are currently actively developing possible treatment options and conducting corresponding clinical trials. Regardless, patients' quality of life and longevity continue to receive attention and challenges from the academic community, which has inspired more exploration of this rare disease.
With further research into Stoneman syndrome, will we be able to find new treatments for this rare disease?
