Relación entre la evolución clínica y la mutación ACVR1 en la fibrodisplasia osificante progresiva

Fibrodysplasia ossificans progressiva is a rare genetic disease in which soft tissues are transformed into heterotopic bone, leading to progressive restriction of movement and a high frequency of misdiagnosis. The study therefore set out to analyse the scientific evidence on the clinical course, diagnosis and treatment of the disease in relation to the ACVR1 mutation. A systematic review was conducted in accordance with PRISMA 2020 in PubMed, SciELO and ScienceDirect, with a sample of 14 studies published between 2012 and 2025. The results showed that the R206H variant renders activin A signalling osteogenic, that the congenital malformation of the great toe guides early suspicion, and that palovarotene reduces new ossification. It was concluded that timely clinical recognition and genetic confirmation prevent procedures that worsen disability.