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Fibrodysplasia Ossificans Progressiva

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Fibrodysplasia Ossificans Progressiva
Abstract
Fibrodysplasia Ossificans Progressiva (FOP) is a disorder with many names. It is also known as Myositis Ossificans Progressive, Munchmeyer disease, or just casually Stone Mans Disease. The term Myositis Ossificans, is favored to the term Fibrodysplasia Ossificans Progressiva, because the ectopic osteogenesis occurs in the connective tissue within muscles, fasciae, tendons, ligaments, and joint capsules rather than in the muscle fibers themselves. It is a very rare autosomal dominant disorder that is characterized by swelling of the muscles, which is very painful for the patient, and also swelling of the connective tissues. It is typically diagnosed early, within the first few weeks of life, because of the congenital deformities of the big toes, and heterotopic progressive osteogenesis, which are two key features that are typically present at birth. Early diagnosis and avoidance of trauma are the key principles in the effective management for these patients. It is particularly disabling in children, and the prognosis for the disorder isn’t very promising. This disorder only promises increasing disability throughout their life, with most FOP patients being wheelchair-bound by the young age of 30. There is no effective treatment for FOP, therefore it is vital for the patient to avoid any soft tissue trauma including biopsies, IM injections, surgical procedures, and even mandibular blocks for dental procedures, as well as any viral illnesses should be avoided if at all possible. Examples of any of these sources may bring episodes of rapidly progressive heterotopic ossification that could possibly result in permanent loss of function to the area that incurred the damage.

Imagine a person being slowly trapped inside their body, BY their own body. Their bones are quietly encasing their organs in a slow, unpredictable dance of a growing, encompassing, stone-like cage made of their own bones. Every bump, every scrape, every bruise or disturbance



References: Fibrodysplasia Ossificans Progressiva. Genetic Home Reference. (2007) Retrieved http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva. International Fibrodysplasia Ossificans Progressiva Association (2012). Gene Discovery Retrieved from http://www.ifopa.org/research/fop-gene-discovery.html International Fibrodysplasia Ossificans Progressiva Association (2012) FAQ Schwartz,R.A., Majewski, S., Majewski,S.S., Jablonska, S. (2011). Fibrodysplasia Ossificans, MedScape Reference. Retrieved from http://emedicine.medscape.com/article/1112501- overview#a0199 UCSF Benioff Childrens Hospital (2013)

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