Tissue turns to bone in "stone man" a rare disease.
What is stone man disease?
Stone man disease, also known as fibromuscular dysplasia (FOP), is a rare genetic disorder that causes bone formation in muscles, tendons, and ligaments. It is a progressive disorder, which means it gets worse over time. The condition affects about 1 in 1 million people worldwide and is most commonly diagnosed in children.
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| Tissue turns to bone in stone man a rare disease. |
Symptoms of stone man disease.
The most common symptom of stone man disease is the formation of extra bone in the body, which can cause a variety of problems. Extra bone may form in areas such as the neck, back, shoulders, and hips, and it can limit movement. It may also cause pain. Other symptoms of the disorder include:
- Limited movement of the arms, legs, fingers and toes
- Breathing difficulty
- joint swelling
- curvature of the spine
- Abnormal bone growth on the forehead, chest, and feet
- Small lower jaw
- Deformation of the fingers and toes
Causes of stone man disease.
Stone man disease is caused by a mutation in the ACVR1 gene, which is responsible for producing a protein called activin receptor type 1. This protein is important for regulating the development and growth of bones and other tissues in the body. In people with stone man disease, the mutation causes the protein to become more active, which leads to the formation of extra bone.
Diagnosis of stone man disease.
Stone man disease is a rare disorder, and it can be difficult to diagnose. Doctors may use a variety of tests to diagnose the condition, including X-rays, CT scans, and MRI scans. Genetic testing may also be used to confirm a diagnosis of stone man disease.
Stone man disease treatment.
Unfortunately, there is currently no cure for stone man disease. Treatment focuses on controlling symptoms and preventing further bone growth. Pain medications and physical therapy may be used to help manage pain and improve mobility. Surgery may also be used to remove excess bony growth from the body.
Living with stone man disease.
Living with stone man disease can be difficult, as the condition can cause significant physical limitations. It is important for people with this disorder to find support and stay active as much as possible. It's also important to keep up with regular medical exams and follow any treatment plans your doctor recommends.
Conclusion.
Stone man disease is a rare disorder that causes extra bone to form in muscles, tendons, and ligaments. It is a progressive disorder, which means it gets worse over time. Diagnosing stone man disease can be difficult, and there is currently no cure. Treatment focuses on controlling symptoms and preventing further bone growth. Living with this condition can be difficult, but it is important that you find support and stay active as much as possible.