Abstract

A REVIEW ON FUTURE INSIGHTS AND EMERGING STRATEGIES OF FIBRODYSPLASIA OSSIFICANS PROGRESSIVA A PROGEROID SYNDROME

Anna George*, Khadheeja S. Shahul, Subhala R. and Tijisha Mol J.

ABSTRACT

The extremely uncommon and severely debilitating genetic condition known as fibrodysplasia ossificans progressiva (FOP) is typified by the gradual development of bone within soft tissues. An extensive overview of FOP is given in this review article, which also discusses its genetic foundation, clinical presentations, difficulties in diagnosing the condition, and current therapy approaches. The first signs of FOP are usually congenital abnormalities of the big toes, which usually appear in early childhood. Ectopic bone development is triggered by flare-ups, which are characterized by excruciating soft tissue swelling. This results in joint stiffness, deformities, and significant limitation of movement. Mutations in the ACVR1 gene, which dysregulate signaling pathways related to bone and muscle development, are the underlying genetic etiology of FOP. Although there isn't a cure, there are a number of treatment options that try to lessen symptoms and enhance the lives of those who are impacted. This analysis emphasizes how crucial it is to continue working to identify the underlyingmolecular causes of FOP and create fresh treatment approaches. All things considered, improving clinical care and improving outcomes for those suffering from this debilitating illness require a greater knowledge of FOP.

Keywords: Fibrodysplasia ossificans progressiva (FOP), ACVR1 gene, congenital abnormalities.