Osteogenesis Imperfecta or OI is a medical condition where a person is born with brittle bones. OI has various degrees of severity. Victims of this impairment can easily break their bones. It does not take much for a bone to fracture. Bones seem to break without any bumps to the body. Thankfully the disorder is rare.
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 similar to Type 1, but often there are dental problems. Teeth can be brittle and discolored. Type 5 through 8 are complicated to describe, more rare and localized in specific geographic areas. Some exhibit a mesh like bone structure. There are often problems moving wrists and elbows.
Physiotherapy can be helpful for some patients. It can strengthen muscles and help a patient be more mobile, but there is some risk of fractured bones during treatment. Risk can be mitigated by performing treatment in water tanks or a pool. It is suggested that those who suffer from OI frequently change positions throughout the day. This ensures all muscles are being used. Sometimes spinal fusion surgery will be performed to help correct scoliosis.
It is common to find patients using wheelchairs, crutches, and other adaptive equipment. This gives them a high degree of freedom. Long bones can be made stronger when metal rods are surgically inserted.
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.
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 similar to Type 1, but often there are dental problems. Teeth can be brittle and discolored. Type 5 through 8 are complicated to describe, more rare and localized in specific geographic areas. Some exhibit a mesh like bone structure. There are often problems moving wrists and elbows.
Physiotherapy can be helpful for some patients. It can strengthen muscles and help a patient be more mobile, but there is some risk of fractured bones during treatment. Risk can be mitigated by performing treatment in water tanks or a pool. It is suggested that those who suffer from OI frequently change positions throughout the day. This ensures all muscles are being used. Sometimes spinal fusion surgery will be performed to help correct scoliosis.
It is common to find patients using wheelchairs, crutches, and other adaptive equipment. This gives them a high degree of freedom. Long bones can be made stronger when metal rods are surgically inserted.
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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