Stone man disease is a very rare and very debilitating condition thought to affect approximately one in a million people in the US. As the name suggests, the disease causes the body’s soft tissue to harden, essentially trapping patients in a second skeleton.
What Is Fibrodysplasia Ossificans Progressiva?
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Also referred to as Münchmeyer disease or its scientific name fibrodysplasia ossificans progressiva (FOP), stone man disease stems from a mutation in the gene ACVR1, which causes muscle and connective tissue to be replaced by bone tissue over time – a process known as ossification. This effectively ends up creating a second skeleton that inhibits movement, rendering a person permanently immobile.
What are the symptoms of Fibrodysplasia Ossificans Progressiva?
While symptoms progressively worsen, it is a congenital condition, meaning it is present from birth. Malformed big toes are often the earliest sign of the disease but ossification first occurs in childhood, most commonly between the ages of 3 and 5. The neck, back, chest, arms and legs are typically the areas first affected.
From childhood, patients begin to experience flare-ups that can cause swelling and pain as well as stiffness, fever, lethargy and reduced mobility. These flare-ups may be triggered by inflammation, illness, and injuries and frequently lead to additional ossification of the tissue. Because the condition is progressive, mobility decreases over time and most will need a wheelchair before they turn 30. What’s more, ossification in the mouth can lead to difficulties eating and speaking, while deafness is reported in up to a fourth of patients.
The disease can affect anyone, regardless of sex, race and ethnicity, and while there have been instances where a gene has been inherited from a parent, it most often occurs in people with no family history of the condition.
As of yet, there is no cure for stone man disease. However, according to Penn Medicine, there are anti-inflammatory medicines, such as corticosteroids, that can help to relieve some of the symptoms. More recently, the US Food and Drug Administration (FDA) approved the use of palovarotene in cases of FOP after a study that found it reduced rates of ossification by 54% compared to the control group. It is the first treatment for the disease.
Source Link: What Is Stone Man Disease?
