Osteogenisis Imperfecta By Dylan Tremaine

Osteogenisis Imperfecta is most commonly described with brittle bones but there is much more to it , it affects a special material that is used very commonly Within the body Collagen. Osteogenisis Imperfecta or OI is found in chromosome 17 in the gene Col1a1 and due to its deformities or mutations when this strand of Dna is used to help develop or create bone it either doesn't create enough collagen or makes the collagen in an imperfect way , and so either way this creates easily broken bones and much more signs and symptoms , this is also caters arises in different types of how dangerous or harmful the disease is.

Frequency

Osteogenisis Imperfecta has different frequency of how many people have the disease

  • Type 1 has a 1/30,000 people with the disease that gives us a rough estimate of 237,500 people with type 1
  • Type 2 has a 1/60,000 people with the disease and so gives us an estimate of 118,750 people with type 2
  • Type 3 has a 1/70,000 people with the disease and so gives us an estimate of 101,786 people with the type 3

This give us a total of 458,036 people with those three types even though there are many types coming to realisation in fact there are 8 types but from type 5 to 8 they become more and more rarer . but this is a rough estimate and should be taken with a grain of salt.

Common areas

OI as said before has many types and can be found all over the world but theses are but some examples of how long the disease has lasted through history, there was an ancient Viking named Ivar the boneless and and was a ruthless warlord in the 9th century AD , there also was an ancient Egyptian corpse that was first. Belived to be a monkey but was actually an ancient example of OI and is over 3,000 years old, but in Zimbabwe there are multiple tribes that have had over 2,000 years of OI in the family genetics and can be easily found there.

Symptoms and Signs

Some of the symptoms and signs are ...

Blue Sclera

One of the many signs that people use to diagnose people with OI is the distinctive blue Scliria or the white part of the eyes , people with OI have a blue tint to it.

Hyper mobility

One symptom people with OI experience is lose joints or hyper mobility this is due to the fact that collagen is found in the joints and so having imperfect collagen causes the joints to be loose and so can be taken out of place in unnatural ways, also because of this , people with OI use the wrong muscles to move the wrong parts of their body due to their una natural joints this makes it exeptinarily more difficult to produce more muscles.

Bone Deformities

The most common or determining sign that helps pick up the disease in infants is bowed legs or any irregular bone deformities such as spinal curvature

And triangular or misshapen faces.

And due to constant breaks people with OI can go into a break cycle this is when people brake after breake after breake to the point it stunts their growth and or makes them grow In unnatural ways

Me and my bone deformities this is an example of someone with type 1

Another bone deformitiy is barrel chest this is when the alignment of the ribs is slightly out of alignment and can cause a misshapen chest

Dentinogensis Imperfecta

With OI win some,or most types of the diseases it usually comes with brittle teeth aswell and this is called dintenogensis Imperfecta wich is OI for teeth notice the plastic almost transparent teeth that is slightly coloured these are signs of dintenogensis Imperfecta

Broken Bones

Finally Obivously OI is most famous symptom allowing people,to break bones really severely due to the collagen and this is not spared upon some parts of the body hearing loss can be exepericed due to the bones in your ears fracturing which is very easily done,

with this most people with OI do not get a chance to grow without breaking bones due to when you grow your bones extend but they become thinner and so your bones can easily break even more . This is why people with OI need other options to try and support their bones for example due to this break being so bad they implanted a titanium rod so that it can grow or heal the right way and to also support and make the bone stronger

An X-ray of my leg after surgery for the broken femur in the backround which was my breaks

HEREDITY

Osteogenisis Imperfecta is an autosomal gene that has both a dominant and recessive form most people have the dominant form while there are small amounts of people with the recessive gene people can get the dominant gene without having to inherit it , people can spontaneously genetically mutate and get the dominant gene with out any of the family history having it.

DNA TESTS

Their are many Phyisical attributes and traits that can help in a diganosim Of a patient such as most of the symptoms and signs but their are profesionalized people who can extract DNA from a swob of any particular cell in the body and they can deconstruct it and make the DNA align it's self into the chromosomes with the help of chemicals and because we know of the location of the gene they can therefore deconstruct the DNA and reference it to other people and find out if you have the disease

PROGNOSIS

Type 1 -

The mildest form of OI , people with this type live an unaffected life expectancy but are still affected by symptoms and signs.

Type 2-

The most severe form of OI and usually leads to death Within The first year of life. Infants die the moment they take their fist breath because they break their ribs as the lungs expand

Type 3 -

A severe form of OI many Fractures and growth stunting in early life can have severe bone deformities many people need wheelchairs and often have somewhat of a shortened life expectancy

Type 4 -

Moderately sever form of OI , It is similar to type 1 although people with type 4 often need braces or crutches to walk . Have a normal or near normal life expectancy

Treatments

Pamidronate

Picture of me receiving pamidronate

Pamidronate is a bios phosphate . It is a chemical that is infused into the body every 6 months . The chemical slows the process of decay for old bone and speeds up the creation of new bone therefore making thicker denser bones to try and assist in trying not to break bones. People who have been treated with pamidronate get a line above there growth plate every time they are given the infusion such as the X-ray below

Pictures of my growth plates and Pam lines showing how many pamidronate infusions I've had

Zolidronate

Zolodronate is also a bio phosphate and it does the same thing as pamidronate it is just twice as strong and potent to the point it is only required for about once a year

Biblioghraphy

References

Ablon, J. (2010). Brittle bones, stout hearts and minds: Adults with osteogenesis imperfecta. Sudbury, Mass [u.a.: Jones and Bartlett Publ.

Department of Human Genetics. (1987, August 27). Osteogenesis imperfecta type III: an ancient mutation in Africa? - PubMed - NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/3425600

The Forensics libary.Retrieved from http://aboutforensics.co.uk/dna-analysis/

Gale database. (2017, April 5). Retrieved from go.galegroup.com/ps/i.do?p=GPS&sw=w&u=61wa_ccc&v=2.1&id=GALE%7CA222783547&it=r

Lowenstein, E. J. (2009, May). Osteogenesis imperfecta in a 3,000-year-old mummy | SpringerLink. Retrieved from http://link.springer.com/article/10.1007%2Fs00381-009-0817-7

National health foundation. (2015). Fast Facts - Osteogenesis Imperfecta Foundation | OIF.org. Retrieved from http://www.oif.org/site/PageServer?pagename=fastfacts

Osteogenesis Imperfecta - Bone Extracellular and Matrix Branch. (n.d.). Retrieved from https://oiprogram.nichd.nih.gov/dominant.html

Osteogenisis genesis Imperfecta foundation. (2007, November 29). Testing Facilities - Osteogenesis Imperfecta Foundation | OIF.org. Retrieved from http://www.oif.org/site/PageServer?pagename=Testing

Osteoporosis and related bone diseases national research center. (2015, June). Osteogenesis Imperfecta Overview. Retrieved from https://www.niams.nih.gov/health_info/bone/osteogenesis_imperfecta/overview.asp

Sillence, D. (2016, June 1). Retrieved from https://www.oiaustralia.org.au/wp-content/uploads/2016/06/OI_Book_2nd_ed_Complete.pdf

Virtual Medical Center. (2015, September 30). Osteogenesis imperfecta (Brittle bone disease) | myVMC. Retrieved from https://www.myvmc.com/diseases/osteogenesis-imperfecta-brittle-bone-disease/#Statistics

Wikipeadia. (2017, March 27). Ivar the Boneless - Wikipedia. Retrieved April 6, 2017, from https://en.m.wikipedia.org/wiki/Ivar_the

Created By
DYLAN Tremaine
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