Interesting Information About Osteogenesis Imperfecta

By Lela Perkins


The scientific name for brittle bone disease is Osteogenesis Imperfecta or OI for short. There are different types and levels of severity of OI. The main problem with living with this condition is the bones are extremely fragile and can break very easily. There are other serious effects such as lung, hearing and dental problems.

OI has no cure, but there is much research ongoing by scientists and doctors. There has been much progress in helping patients manage their lives so they can live as normally as possible. It is a genetic imperfection that effects the quality and quantity of the connective tissue collagen. OI is classified into eight types with several sub-types. Notwithstanding these classifications, symptoms are quite different among patients.

With Type 1, collagen is normal but the patient does not have enough of it. The spine has a slight curvature. Joints are extremely loose. The whites of the eyes have a peculiar blue-gray color caused by veins showing through. Many children lose their hearing. Eyes tend to bulge out in a hideous fashion. With Type 2, the collagen is both flawed and of an insufficient quantity. Sadly, many babies die within one year. The lungs do not develop properly, so often there are respiratory problems. The patient does not grow to normal adult height. The spine is severely deformed.

With the third type, collagen is deformed but there is sufficient amounts. It is not uncommon for a baby to fracture bones while still in their mother's womb. Those with the third type have a curved spine and are also short in stature. Typically, they have a barrel chest and a triangle face that is unique to this medical impairment. Many patients with the third type have double joints or extremely loose joints. Legs and arms will have poor muscle tone. Frequently, patients grow deaf while still young. The symptoms are mild when the patient is born, but as they mature, they grow progressively worse.

Type 4 is much like Type 1, only there are frequently problems with teeth and gums. Teeth are discolored and extremely brittle. The types 5 through 8 are complex and even more rare. Some symptoms are characteristic mesh-like bones, problems with moving elbows and wrists. Some sub-types are restricted to specific local geographic areas.

The patient sometimes has physiotherapy to make muscles stronger and improve motility, although there is a risk of bone fracture. The treatments can be done in swimming pools or water tanks with cushions to help with posture. Patients should change positions frequently during the day to make sure all their muscles are being used. Scoliosis can be corrected with spinal fusion surgery.

Adaptive equipment such as crutches, walkers, and wheelchairs can help patients live more normal, independent lives. Surgically inserted metal rods in long bones can help strengthen them. Surgery is always more risky when bones are so fragile.

There are foundations and other organizations dedicated to researching Osteogenesis Imperfecta. Your support of these organization can help those who suffer with OI. Despite the lack of a cure, medical progress is helping patients lead productive, independent lives.




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