A BRIEF OVERVIEW OF THE VERY RARE FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (STONE MAN SYNDROME)


K. Bhavya Sri

Abstract


Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disorder with only about 800 million people affected worldwide. It occurs as a result of the mutation in Activin A receptor type 1 (ACVR1) gene leading to extraskeletal structure formation which further gradually progresses to skeletal deformities and premature death. This disorder is also known as stone man syndrome as it causes joints to become frozen resulting in mobility impairment. It is generally identified in early childhood and affects almost every organ. Though there is no approved treatment for this rare disorder, researchers are in progress. Supportive therapy and care can help the patients to some extent by providing temporary relief. In this review, we will briefly outline the information regarding FOP which is difficult to diagnose and whose misdiagnosis is dangerous.


Keywords


Fibrodysplasia Ossificans Progressiva, Stone Man Syndrome, Activin A Receptor Type, Misdiagnosis, Supportive Therapy

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References


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About this article

Title

A BRIEF OVERVIEW OF THE VERY RARE FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (STONE MAN SYNDROME)

Keywords

Fibrodysplasia Ossificans Progressiva, Stone Man Syndrome, Activin A Receptor Type, Misdiagnosis, Supportive Therapy

DOI

10.22159/jcr.2018v5i1.22809

Date

03-01-2018

Additional Links

Manuscript Submission

Journal

Journal of Critical Reviews
Vol 5, Issue 1 (Jan-Feb), 2018 Page: 1-3

Online ISSN

2394-5125

Statistics

99 Views | 89 Downloads

Authors & Affiliations

K. Bhavya Sri
Department of pharmacy practice, Vishwa Bharathi College of Pharmaceutical Sciences, Perecharla, Guntur, Andhra Pradesh, India, 522009
India


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