Osteogenesis Imperfecta or OI is a genetic impairment where the bones are very brittle and fragile. The condition is classified into types that define the level of severity and symptoms. There are certain characteristic symptoms that are indicative of this rare disorder.
Medical science has made great progress understanding the underlying causes of OI, but there is no cure. It is caused by defects with the connective tissue collagen. Either the collagen is defective or there is insufficient amounts of it, or both. There is a broad spectrum of severity of the symptoms. Some cases grow progressively worse over time.
The characteristics of Type 1 OI is that there is insufficient amounts of collagen, but it is of a normal quality. There is a slight curvature of the spine. Patients have very loose joints. Often eyes are discolored, with the white of the eyes having a blue-gray color from veins shining through. Frequently the eyes seem to bulge out of the sockets. Hearing loss is not uncommon, especially in children. Those with Type 2 have deformed collagen but the amount of collagen is sufficient. Infants with Type 2 do not usually live for more than one year. Breathing problems are often seen because improper development of the lungs. Patients are very short in stature with very deformed spines.
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.
Many patients improve their quality of life with crutches, walkers, wheelchairs and adaptive equipment. Their ability to live meaningful, productive, and independent lives is improved by these advances in medical equipment. Metal rods can be inserted into long bones to increase strength.
There are support groups and research foundations working on Osteogenesis Imperfecta. Your support can help make progress. Those who suffer from this condition can have better lives thanks to the hard work of medical science.
Medical science has made great progress understanding the underlying causes of OI, but there is no cure. It is caused by defects with the connective tissue collagen. Either the collagen is defective or there is insufficient amounts of it, or both. There is a broad spectrum of severity of the symptoms. Some cases grow progressively worse over time.
The characteristics of Type 1 OI is that there is insufficient amounts of collagen, but it is of a normal quality. There is a slight curvature of the spine. Patients have very loose joints. Often eyes are discolored, with the white of the eyes having a blue-gray color from veins shining through. Frequently the eyes seem to bulge out of the sockets. Hearing loss is not uncommon, especially in children. Those with Type 2 have deformed collagen but the amount of collagen is sufficient. Infants with Type 2 do not usually live for more than one year. Breathing problems are often seen because improper development of the lungs. Patients are very short in stature with very deformed spines.
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.
Many patients improve their quality of life with crutches, walkers, wheelchairs and adaptive equipment. Their ability to live meaningful, productive, and independent lives is improved by these advances in medical equipment. Metal rods can be inserted into long bones to increase strength.
There are support groups and research foundations working on Osteogenesis Imperfecta. Your support can help make progress. Those who suffer from this condition can have better lives thanks to the hard work of medical science.
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