Recording 5-21-2024 3-52-43 pm

Stoneman syndrome, or fibrodysplasia ossificans progressiva (FOP), is a rare genetic disorder where muscles and tendons turn into bone. It is caused by a mutation in the ACVR1 gene, which leads to abnormal bone formation instead of tissue repair. FOP has no known risk factors and significantly reduces life expectancy. There is no cure, but treatments can help manage symptoms. Research is ongoing, with one therapy aiming to slow the mutated gene's activity. Symptoms include stiffness, limited motion, and bony lumps. FOP can affect organs, particularly the respiratory and cardiovascular systems. FOP affects about 2,500 people worldwide. More information can be found at UCSF Benioff Children's Hospital, the National Organization for Rare Disorders, and MedlinePlus. to talk about Stoneman syndrome. All right, let's get started. So what exactly is Stoneman syndrome? Stoneman syndrome, or fibrodysplasia ossificans progressiva, is a very rare genetic disorder that causes muscles, tendons, and ligaments to turn into bone over time. That's interesting, how is it caused? People that have this disease are born with it, although the individual may go several months or years before they see a flare-up. The disease is autosomal dominant, so someone only needs one parent that has the disease to get it themselves. Parents with FOP have about 50% chance of passing it onto their own children. Most of the time, the disease is caused by a mutation in the gene ACVR1, which plays a role in regulating bone and muscle development. But how does the mutation of ACVR1 cause Stoneman syndrome? It changes the normal function of a protein that helps out with bone and muscle development. The mutation leads to formation of abnormal bone and soft tissues like muscle. So instead of repairing damaged tissue, the body mistakenly starts forming new bones. It basically takes over the soft tissue and restricts movement for the individual. Are there any risk factors that may cause an individual to be at a higher chance of developing the disease? There are no known risk factors, since FOP is caused by a genetic mutation. So is fibrodysplasia ossificans progressiva deadly? It's not deadly, but it significantly reduces life expectancy into early adulthood. However, inability to move and the formation of abnormal bone can greatly impact one's quality of life. People with FOP must receive adequate medical care and support to aid with their progressing symptoms. Are there any cures or treatments? As of today, there is no care for FOP. There are treatments available to help ease symptoms, such as medications to reduce inflammation and slow the progression of the condition. Physical therapy helps maintain flexibility. Research is still being done to find better treatments and eventually a cure. What are some of the therapies being researched? One that I can tell you about aims to slow the activity of the mutated ACVR1 gene. They would use a small molecule or antibody to block the abnormal bone formation. What are some symptoms of FOP? Some symptoms include progressive stiffness and limited motion and joints. There may also be bony lumps or nodules. Symptoms may worsen over time and lead to difficulty completing normal everyday activities. Can FOP affect organs in the body? While it is rare, it can affect other organs in the body. It can impact the respiratory system, which may lead to breathing problems or the cardiovascular system, which could inhibit heart function. The abnormal formation of bone in chest and neck muscles may restrict lung function by not allowing it to expand or expand fully, which can make breathing more difficult. The presence of abnormal bone can impact blood vessels and even the heart if they become compressed. This can disrupt the normal flow of blood and oxygen, which can lead to several cardiovascular complications, including reduced blood supply to organs and even impaired heart function. How many people have FOP? Fibrodysplasia ossificans progressiva only affects about 2,500 people, which is about one in every two million people worldwide. Well, thank you so much for telling me about this. It's pretty cool. Where can I read more about this? Of course, I got all the research from UCSF Benioff Children's Hospital, the National Organization for Rare Disorders, and MedlinePlus. I attached all the links in the transcript below. Bye.