A three-year-old study tracked dozens of patients experiencing an ultra-rare disorder that slowly turns tendons, ligaments, and muscles into bone.
According to a ScienceAlert report, this lifelong, irreversible disorder is called "fibrodysplasia ossificans progressiva or FOP.
Researchers Track an Ultra-Rare Disease That Turns Muscle to Bone https://t.co/b6Ita3fs19
— ScienceAlert (@ScienceAlert) October 8, 2022
Whereas approximations on its prevalence vary, confirmed cases arise in approximately one of every one to two million births.
Only roughly 800 patients have been diagnosed with the said condition globally. Then, in 2006, it was discovered that 97 percent of patients harbored the same generic variant of the disease.
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Rarity and Severity of FOP
The mutation occurs in a gene that codes for a receptor controlling bone development, appearing to cause stem cells to generate tissue in places that usually should not have it.
Given the rarity and severity of FOP, it is hoped that the current research finding published in the Genetics in Medicine journal will enable doctors to address the underserved patients' medical needs better.
Essentially, the progressive calcification of soft tissue from this condition is not constant as it particularly comes in waves.
The episodes typically start in childhood and begin in the shoulders and neck, causing ribbons, plates, and sheets of bones to form.
Rate of 'Calcification'
Not all people suffering from FOP show a calcification rate, although once the bone is laid down in a body part, it is permanent. Most people need a wheelchair by the time they reach the age of 20 years old.
Unfortunately, there are currently no treatments for FOP, although the swelling and pain experienced by patients can be relatively alleviated with medicine.
Over the course of a patient's life, illness and physical trauma can lead to flare-ups of muscle swelling and inflammation that can last days to months, frequently resulting in bone formation afterward. If such occurrences can be limited, there is a chance that the progression of the disorder can be stalled.
The recent long-term study is one of the first to delve into the progression of FOP, detailed in a report from the Genetic and Rare Diseases Information Center among over a hundred patients.
Past studies on the one-in-a-million condition have been retrospective or based on patient reports.
FOP Progression
Even though the progression of FOP appears to slow with age, 70 percent of individuals aged 25 to 65 revealed new bone volume at a yearly study check-up.
The most typical symptoms reported during these visits include severe pain, swelling of soft tissue, and minimal movement.
In this research, the authors concluded that results from individuals who receive standard care for up to three years in this natural history study reveal the debilitating and progressive nature of FOP cross-sectionally and longitudinally, with the greatest progression during childhood and early adulthood stages.
Furthermore, findings show that the most common medication used by many patients is nonsteroidal anti-inflammatory drugs.
However, during the study, almost 80 percent of participants started a new medication, suggesting they were desperately trying to find something that could help them feel better.
Lastly, FOP does not affect the musculoskeletal system, either. Patients involved in the research were typically found to experience respiratory problems such as reduced ability to expand the chest and hearing loss. Between the two, the first mentioned can even be fatal.
Related information about FOP is shown on CNN's YouTube video below:
Check out more news and information on Rare Occurrences in Science Times.
