The Stoneman Syndrome

Muscles are fascinating structures of the human body that allow us to move, speak, jump, eat, and more. Many organs, including the heart, some digestive organs, and even blood vessels, are made up of muscular tissues. Can you even imagine life without muscles?

The Stoneman Syndrome (fibrodysplasia ossificans progressive or FOP) is an extremely rare connective tissue disorder caused by a gene mutation discovered by Von Duschin in 1868. But it was not until 1869 that Ludwig Munchmeyer was able to describe the disease based on 12 cases, which is why it is also known as Munchmeyer's disease.

So what does this disease do? Well, as the name 'Stoneman' suggests, the muscles begin to harden into bones by the process of ossification. This restricts movement, affects eating habits and even leads to organ failures. Most often, sufferers find it difficult to speak as the jaws are one of the first joints to be affected. Over time, affected people may face breathing difficulties due to the extra skeleton formed outside the ribs that reduce lung capacity.

Diagnosis is difficult in early childhood since symptoms are minor and may be mistaken for other conditions. These include big toes, short fingers and other skeletal abnormalities. The fact that the disease is extremely rare, affecting only one in 2 million people worldwide, makes early diagnosis even more difficult for medical professionals.

Any difficulty to the muscles of affected people or even viral infections like influenza may trigger the rapid growth of the bones and lead to flare-ups (in medical terminology, flare-ups refer to periods of severe symptoms). With so many challenges that a diagnosed person have to face, what do you think the average life expectancy is? It's fascinating to see that the average life expectancy is about 56 years. But unfortunately, FOP is fatal, often due to cardiorespiratory failure because of the limitation that the heart and lungs experience over time.

In most cases where there is no trace of the disease in the family history, it is often due to new mutations in the gene that causes this syndrome. However, it can also be inherited through autosomal dominance inheritance pattern i.e. an affected parent passes the mutated gene to an offspring.

Unfortunately, there is currently no cure for Stoneman syndrome. Patients diagnosed with this syndrome are prescribed corticosteroids to relieve symptoms and prolong periods of remission (times when symptoms are not significant). But with developments in the medical field, we can hope for discoveries that may provide a cure for this extremely rare and fatal disease.