Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal genetic disease that results in abnormal bone formation (heterotopic ossification) in areas of skeletal muscles and connective tissues. Genetic studies have identified the causative mutations in Activin-like kinase 2 (ALK2), a type I receptor of bone morphogenetic proteins (BMPs). Currently no effective treatments are available for FOP, and the disease is often misdiagnosed for less awareness. It is believed that China has the largest number of FOP patients in the world due to its population. However, most Chinese FOP studies were reported in mandarin, instead of English, the international language of science. In this article, I have identified 126 reported Chinese FOP cases by literature search and analyzed these cases from aspects of disease epidemiology, great toe clinical sign, causative mutations and onset ages. In addition, I summarize the most updated knowledge as well as current ongoing clinical trials in FOP field.
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