Fibrodysplasia Ossificans Progressiva By Bryor Gage Moritz

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

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

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

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

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

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

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.

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

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 Mütter Museum

Work Cited   plasia_ossificans_progressiva/ plasia_ossificans_progressiva/  plasia-ossificans-progressiva-fop/symptoms-and-causes plasia-ossificans-progressiva-fop/symptoms-and-causes   odysplasia-ossificans-progressiva-fop-for odysplasia-ossificans-progressiva-fop-for