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.
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 Type 3, the patient has sufficient quantities of collagen but it is deformed. Bones can fracture before the baby is even born. The patient's stature is short with a curved spine and a characteristic barrel chest and rib cage. There is often a triangle shaped face that is indicative of this condition. There are often double joints. Arms and legs have poor muscle tone. The eyes are discolored with the white of eyes appearing blue. Hearing loss at a young age is common. This is a progressive form of the condition. Symptoms are mild at birth but get worse as the patient ages.
The fourth type is a lot like the first type, but the patient suffers dental problems. Their teeth are discolored and very brittle. The rest of the types are complicated to describe using language that a layperson would understand. They are rare and some are found in certain local geographic areas.
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 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 Type 3, the patient has sufficient quantities of collagen but it is deformed. Bones can fracture before the baby is even born. The patient's stature is short with a curved spine and a characteristic barrel chest and rib cage. There is often a triangle shaped face that is indicative of this condition. There are often double joints. Arms and legs have poor muscle tone. The eyes are discolored with the white of eyes appearing blue. Hearing loss at a young age is common. This is a progressive form of the condition. Symptoms are mild at birth but get worse as the patient ages.
The fourth type is a lot like the first type, but the patient suffers dental problems. Their teeth are discolored and very brittle. The rest of the types are complicated to describe using language that a layperson would understand. They are rare and some are found in certain local geographic areas.
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 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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