What is the prevalence of Fibrodysplasia ossificans progressiva?
How many people does Fibrodysplasia ossificans progressiva affect? Does it have the same prevalence in men and women? And in the different countries?
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder characterized by the progressive formation of bone in muscles, tendons, and ligaments. It affects approximately 1 in every 2 million people worldwide, making it one of the rarest conditions known. FOP is caused by a mutation in the ACVR1 gene, which leads to abnormal bone growth and restricted movement. The condition typically manifests in early childhood and worsens over time, resulting in significant disability and reduced life expectancy. Currently, there is no cure for FOP, and treatment focuses on managing symptoms and improving quality of life.
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder characterized by the progressive formation of bone in muscles, tendons, and ligaments. It affects approximately 1 in every 2 million people worldwide, making it one of the rarest conditions known. FOP is caused by a mutation in the ACVR1 gene, which leads to the abnormal activation of a protein involved in bone and muscle development.
The prevalence of FOP varies across different populations, but it is estimated that there are around 800 confirmed cases worldwide. The condition is usually diagnosed in early childhood, with symptoms typically appearing during the first decade of life. FOP is characterized by episodes of painful soft tissue swelling, which can be triggered by trauma or occur spontaneously. Over time, the swelling can progress to the formation of heterotopic bone, leading to joint stiffness, limited mobility, and eventually complete immobilization.
Due to its rarity, FOP is often misdiagnosed or unrecognized, leading to delays in appropriate treatment and management. There is currently no cure for FOP, and treatment focuses on managing symptoms and preventing further progression of the condition. Research efforts are ongoing to better understand the underlying mechanisms of FOP and develop potential therapies to improve the quality of life for individuals affected by this debilitating disorder.
