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 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 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.
The patient sometimes has physiotherapy to make muscles stronger and improve motility, although there is a risk of bone fracture. The treatments can be done in swimming pools or water tanks with cushions to help with posture. Patients should change positions frequently during the day to make sure all their muscles are being used. Scoliosis can be corrected with spinal fusion surgery.
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.
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 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 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.
The patient sometimes has physiotherapy to make muscles stronger and improve motility, although there is a risk of bone fracture. The treatments can be done in swimming pools or water tanks with cushions to help with posture. Patients should change positions frequently during the day to make sure all their muscles are being used. Scoliosis can be corrected with spinal fusion surgery.
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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