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Fibrodysplasia ossificans progressiva

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by

Rylie Munn

on 23 October 2017

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Transcript of Fibrodysplasia ossificans progressiva

"Stone Man Syndrome"
affects connective tissues, fascia, ligaments, tendons and skeletal muscles through "ossification"
Flares up from minor trauma such as intramuscular immunizations, mandibular blocks for dental work, muscle fatigue and blunt muscle trauma from bumps, bruises, falls or influenza-like illnesses
More info
Reports date back to 1700s
One of the rarest diseases of all time
Even a fever or things like anesthesia cause rapid bone growth
What is the disease?
Screening

Deformed big toes
First 10 years: develop highly inflammatory soft tissue swellings (usually on the back)
Future Research
Proteins that could potentially "turn off" leaky receptor
Scientists still unsure why the mutation affects the receptors of BMP
"The ultimate goal of FOP research is the development of treatments that will prevent, halt or even reverse progression of the condition."
Mice testing
International FOP Association
Treatment
Often misdiagnosed
No treatment or cure
"Treatment" usually causes more problems than it helps
How is it inherited?
Autosomal dominant, mother and father can pass it on
50% chance of child having it
Most cases from spontaneous mutation
What is the genetic mutation?

Chromosome 2q23–24 (on 2)
ACVR1 gene
Gene is present in all fetuses, but deactivated after bone formation
"The discovery of the FOP gene was the culmination of a monumental 15-year search."
General Information
Medical Response

Genetics
Fibrodysplasia ossificans progressiva
Harry Eastlack
References
Kaplan, F. S., Le Merrer, M., Glaser, D. L., Pignolo, R. J., Goldsby, R., Kitterman, J. A., … Shore, E. M. (2008). Fibrodysplasia ossificans progressiva. Best Practice & Research. Clinical Rheumatology, 22(1), 191–205. http://doi.org/10.1016/j.berh.2007.11.007
International FOPA Association. http://www.ifopa.org/donate_to_the_ifopa
National Organization for Rare Disorders. Fibrodysplasia ossificans progressiva. https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/#references
Genetics Home Reference. Fibrodysplasia ossificans progressiva. October 17, 2017. https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva#
by Rylie Munn
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