Fibrodysplasia Ossificans Progressiva

📋Overview

This rare genetic disorder involves the progressive formation of heterotopic bone within soft tissues such as muscles, tendons, and ligaments. This process typically results in the gradual replacement of these tissues with mature bone, leading to severe mobility restrictions. It is caused by a mutation in the ACVR1 gene, which regulates bone growth. Flare-ups are often triggered by minor trauma or viral illnesses, causing painful swelling followed by new bone formation. Over time, the extra-skeletal bone locks joints in place, significantly impacting the quality of life and respiratory function.