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.
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.
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.
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
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