Fibrodysplasia Ossificans Progressiva - PowerPoint PPT Presentation

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Fibrodysplasia Ossificans Progressiva

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  1. Fibrodysplasia Ossificans Progressiva By Bryor Gage Moritz

  2. History • First documented case of fibrodysplasis ossificans progressiva (FOP) was documented in 1692 by French Physician. • FOP means “soft connective tissue that progressively turns to bone” • First known as myositis ossificans progressiva which means “muscle turns progressively to bone” • Later became known as FOP by Dr. Victor McKusick of John Hopkins University School of Medicine in the 1970s (Father of Medical Genetics

  3. Symptoms • Prominent symptom is the malformation of a newborn’s big toe. • Usually shorter and has a turn to it called Valgus deviation • Formation of painful fibrous nodules , tumor like swellings over neck, back, and shoulders. • Often appear after trauma to the body • The nodules transform into bone during the process of heterotrophic ossification. • When the body generates new bone, the patient experiences painful flare-ups • Tissue swelling, joint stiffness and serious discomfort can occur along with a low grade fever • Progresses through limbs to rest of body until all or most of the natural muscle turns into bone that is completely normal

  4. Inheritance • FOP is an autosomal dominant gene or condition • Means one copy of mutated gene is enough for a child to develop FOP • Uncommon due to parents with the disorder are usually unable to reproduce • Very sporadic none the less

  5. Locus/Linkage • 4q27-31, a 36-cM interval on Human chromosome number 4. • Evidence from the two studies of FOP can lead to the conclusion to rule out the noggin gene as the one that causes the disease, but still obscure • Mutations in the ACVR1 gene are held responsible for disorder


  6. Frequency/Effected Groups • Affects one in 2 million • 200 known cases in U.S. • Misdiagnosed 87% of the time for cancer • All groups can be susceptible to the disorder

  7. Age of onset • Average age of onset is 5 years old • Ranges from birth to 25 years old • By age 15 more than 95% of the patients have severely limited mobility of the arms

  8. Prognosis/Treatment • No cure and very little treatment for disease • Individuals will eventually ossify if they live long enough in life • New experimental treatment of Squalamine, an antiangiogenic found in sharks, is being tested to see if it helps to aid the progression of FOP for the better. • Avoiding damage to muscle and tissue is the only preventative.

  9. Recent Progress • Back in 2009 Researchers at the University of Pennsylvannia School of Medicine, found a gene that causes the issue in mice and is their newest focus till the present

  10. Famous/interesting Case • Most Famous case is Harry Eastlack • Body ossified until his death and he could only move his lips • His skeleton is now on display at the MütterMuseum

  11. Work Cited • https://www.ifopa.org/what-is-fop/history-of-fop.html • http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/ • http://www.wellness.com/reference/conditions/fibrodysplasia-ossificans-progressiva-fop/symptoms-and-causes • https://www.orpha.net/data/patho/GB/uk-fop.pdf • http://medicalschool.tumblr.com/post/20127110227/fibrodysplasia-ossificans-progressiva-fop-for