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.
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.
Those with Type 3 have enough collagen but the collagen is defective. Sometimes a baby will fracture bones in its mother's womb. Besides being short with a curved spine and eye discoloration, like in Type 2, those with Type 3 usually have a barrel shaped rib cage. Another characteristic is a peculiar triangle shaped face. Most patients are double jointed or have very loose joints. Legs and arms will have bad muscle tone. With Type 3, symptoms start out mild but progressively worsen as the patient matures.
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.
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.
You can assist efforts to to help those with Osteogenesis Imperfecta by supporting the foundations and other groups dedicated to finding solutions. While there is no cure, improvements in treatments are a huge help to those who suffer with this physical impairment.
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.
Those with Type 3 have enough collagen but the collagen is defective. Sometimes a baby will fracture bones in its mother's womb. Besides being short with a curved spine and eye discoloration, like in Type 2, those with Type 3 usually have a barrel shaped rib cage. Another characteristic is a peculiar triangle shaped face. Most patients are double jointed or have very loose joints. Legs and arms will have bad muscle tone. With Type 3, symptoms start out mild but progressively worsen as the patient matures.
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.
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.
You can assist efforts to to help those with Osteogenesis Imperfecta by supporting the foundations and other groups dedicated to finding solutions. While there is no cure, improvements in treatments are a huge help to those who suffer with this physical impairment.
About the Author:
Read more about Interesting Information About Osteogenesis Imperfecta visiting our website.
No comments:
Post a Comment