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.
A cure for OI does not exist. Doctors and scientists are busy studying the causes, but the best a patient can expect is to learn to manage their condition. We do know that it is caused by a genetic flaw. The type-L collagen, which is a connective tissue, is deficient. There are eight types of OI. Type 1 is the most common form. Symptoms vary among individuals.
The most common form of OI is Type 1, where the collagen is normal but there is an insufficient amount produced by the body. The spine will have a slight curvature and the joints will be loose. The eyes often have a strange discoloration and bulge out. The discoloration is cause by veins behind the white of the eyes showing through. Hearing lose is common and usually occurs during childhood. Those with Type 2 have collagen that is impaired and insufficient in quantity. The lungs do not develop properly so the patients suffer with respiratory problems. The patient never reaches normal adult height so they are very short with deformed spines. Infants born with the second type usually do not survive for more than a year after birth.
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.
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.
There are certain procedures doctors use to manage OI. Physiotherapy improve muscles strength and motility. There is a risk of breaking a bone, however. It helps to perform these treatments submerged in water. Doctors recommend that patients change their positions during the course of the day to exercise more muscles. Sometimes spinal fusion surgery will be done to 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.
A cure for OI does not exist. Doctors and scientists are busy studying the causes, but the best a patient can expect is to learn to manage their condition. We do know that it is caused by a genetic flaw. The type-L collagen, which is a connective tissue, is deficient. There are eight types of OI. Type 1 is the most common form. Symptoms vary among individuals.
The most common form of OI is Type 1, where the collagen is normal but there is an insufficient amount produced by the body. The spine will have a slight curvature and the joints will be loose. The eyes often have a strange discoloration and bulge out. The discoloration is cause by veins behind the white of the eyes showing through. Hearing lose is common and usually occurs during childhood. Those with Type 2 have collagen that is impaired and insufficient in quantity. The lungs do not develop properly so the patients suffer with respiratory problems. The patient never reaches normal adult height so they are very short with deformed spines. Infants born with the second type usually do not survive for more than a year after birth.
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.
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.
There are certain procedures doctors use to manage OI. Physiotherapy improve muscles strength and motility. There is a risk of breaking a bone, however. It helps to perform these treatments submerged in water. Doctors recommend that patients change their positions during the course of the day to exercise more muscles. Sometimes spinal fusion surgery will be done to 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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