Contents:
- Medical Video: When a Child Has Osteogenesis Imperfecta (OI) - Dr. Jessica McMichael
- What is osteogenesis imperfecta?
- What are the causes of osteogenesis imperfecta?
- What are the signs and symptoms of osteogenesis imperfecta?
- OI type 1
- OI type 2
- OI type 3
- OI type 4
Medical Video: When a Child Has Osteogenesis Imperfecta (OI) - Dr. Jessica McMichael
Have you ever heard of osteogenesis imperfecta? This disease is a disease that attacks Fahri's children from Bandung, which has recently been widely reported. Osteogenesis is a disease that attacks bones, making bones more fragile and easily broken even just because they are held. For more details about the disease, see the following review.
What is osteogenesis imperfecta?
Osteogenesis imperfecta (OI) can mean that the bones formed are not perfect. People who have this disease have genetic defects that make their body's ability to make strong bones disrupted. This makes people with OI have fragile and easily broken bones.
The severity of this disease between individuals may be different, ranging from mild to very severe and can cause death before or shortly after birth. So, the life expectancy of each OI sufferer varies, depending on the severity. There are OI sufferers who can destroy hundreds of bones during their lifetime. And, there are also only a few fractures during their lifetime.
Actually this disease is very rare. OI occurs in about 1 in 20,000 people. Apart from experiencing fractures, people with OI can also experience muscle weakness, joint looseness, and bone development abnormalities. In addition, dental problems (dentinogenesis imperfecta) and hearing loss they can also suffer in adulthood, starting in their 20s or 30s.
What are the causes of osteogenesis imperfecta?
Osteogenesis imperfecta is caused by a genetic disorder. People who suffer from osteogenesis imperfecta have certain genes that have mutations that do not function. The gene is a gene that tells the body how to make proteins (type 1 collagen) which is needed in the formation of connective tissue in the bones and is also important in forming ligaments, teeth, and white tissues of the eyeball (sclera). Abnormalities in the gene make type 1 collagen produced by the body of poor quality, resulting in bones becoming brittle and easily damaged.
In many cases, children with OI suffer from this disease because of the derivation of one of their parents. However, in some cases parents of children with OI did not suffer from OI. In this case, OI is caused by spontaneous mutations in the gene, so the gene cannot function properly.
What are the signs and symptoms of osteogenesis imperfecta?
Signs and symptoms of osteogenesis can differ between individuals depending on the severity of the disease. There are four types of OI that are common, this type is distinguished from the frequency of fractures and their severity. The following are signs and symptoms of OI according to their type:
OI type 1
This type is the most common and lightest type. People with OI type 1 experience fractures during childhood and adolescence, often due to minor trauma. And, when he grows up, he will experience fewer fractures. Some signs and symptoms are:
- Broken bones easily occur before puberty
- Stature is normal or almost normal
- Experiencing muscle weakness and joint looseness
- The white part of the eye is usually blue, purple, or gray
- The spine tends to curve
- Bone defects do not exist or occur slightly
OI type 2
This type of OI is the most severe. Most babies born with OI type 2 will be stillborn or die shortly after birth. This is because the baby's chest is narrow, his ribs are broken, and his lungs are left behind, so the baby fails to breathe. Some other signs and symptoms are:
- Bones appear bent and broken before the baby is born
- Short arms and legs and slouching body
- Crooked hips
- The skull bones are unusual
- The white part of the eye is colored
OI type 3
Type 3 OI also has relatively severe signs and symptoms. Broken bones can begin before birth or early in infancy. These bone disorders tend to get worse over time and can interfere with the ability to walk in infants. Some of the signs and symptoms of OI type 3 are:
- Bones can be broken easily
- Loose joints and weak muscle development in the arms and legs
- Ribs can break, so they can cause breathing problems
- The white part of the eye is blue, purple, or gray
- Curved spine
- Bone defects
OI type 4
This type of OI has the most varied forms. The severity can range from mild to severe (between type 1 and type 3). About 25% of babies born with OI type 4 experience a fracture at birth. Some of the signs and symptoms of this type of OI are:
- Bones break easily, usually before puberty
- Shorter body
- The more wraps when you get older
- The white part of the eye is white or almost white
- The spine tends to curve
