Osteogenesis imperfecta, is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with Osteogenesis Imperfecta, is affected. Osteogenesis Imperfecta, is caused by genetic defects that affect the body’s ability to make strong bones. In dominant Osteogenesis imperfecta, a person has too little type I collagen or a poor quality of type I collagen due to a mutation in one of the type I collagen genes. Collagen is the major protein of the body’s connective tissue. It is part of the framework that bones are formed around. In recessive Osteogenesis Imperfecta, mutations in other genes interfere with collagen production. The result in all cases is fragile bones that break easily. It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform …show more content…
The term osteoporosis describes bone loss that is extensive enough to increase the risk of fracture. The term is a general one, not related to any specific cause for the bone loss. Nearly all people with OI have osteoporosis, because they do not develop appropriate bone mass at any age. Women and men with OI can experience additional bone loss, such as age-related bone loss, superimposed on a background of OI. Symptoms of additional bone loss may appear at a younger age than commonly seen in people who don’t have
Osteoporosis is a disorder of bones that affects bones making them low in bone mass fragile and will lead to bone fracture. Bone fracture will easily occur as this disease cause the matrix inside the bone become weak and brittle.Bones can become so brittle due to activities such as coughing can cause fractures.According to Macgill (2015) the origin of the word osteoporosis explain the condition of ‘osteo’ is for bone and ‘porosis’ means porous that resulting in weakness. At this condition, the bone tissue is mineralized normally, but the production is not enough to preserve the normal skeletal architecture. 80% of women and 20% men of 28 million American are affected with the osteoporosis. Approximately, women with the age of 50 will develop osteoporosis. Thin bones are the cause of 1.5 million fractures a year. As in Malaysia, the statistic shows that osteoporosis related to fractured is the common health problem especially in elderly..
Osteoporosis is a bone disease due to calcium loss. As a result the bones lose strength and density. People are usually unaware that they have the condition until they experience a fracture.
Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.
There are two types of osteoporosis that have been identified which are primary and secondary. Osteoporotic bones are thin and brittle and are prone to fracture. The bone loss involves both compact and spongy bone. In type I osteoporosis, which occurs typically in postmenopausal women, spongy bone loss predominates, occurring most prominently in the vertebrae and distal radius (Gueldner, Burke, Smiciknas-Wright, 2000). Major complications of type I osteoporosis are crush fractures of the vertebral bodies and the distal end of the radius. Type II, or old-age, osteoporosis is characterized by a proportional loss of compact and spongy bone of the long bones (Gueldner, Burke, Smiciknis-Wright). The most serious fractures of old age are those of
Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this
Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the
This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,
A 42-year old woman went to the metabolic bone clinic with Osteogenesis Imperfecta (OI). She was in the premenopausal stage of life. She has a daughter with the same disease who regularly sees a specialist pediatric clinic. She has pain and stiffness in her back and she worries about her future bone health. As a child she had numerous fractures to her femur, wrist, and her ankles several timers in her late teens. She also had some fractures as an adult. Her latest fracture was a comminuted fracture of her humerus three years ago. She is hyperexstensible and feels her ankles are weak. "Her bone mineral density T scores are –2.6 at the lumbar spine and –1.9 at the total hip. Spine imaging shows several vertebral end-plate deformities, but overall preservation of vertebral height. What are the
Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several types of this disorder ranging in severity. The population affected by this disease ranges by type from one in every sixty thousand to one in every thirty-thousand.
Osteogenesis imperfecta (OI) is a disease that causes your bones to break easily, it is also known as brittle bone disease, fragilitas ossium and vrolik disease. OI typically is considered to be a dominantly inherited disorder. Most cases of OI that have been reported have an autosomal dominant pattern. Many people who have this disease have it because they have inherited a mutation from their parent. In some cases, it may have an autosomal recessive pattern. This would be cased due to both parents carrying one copy of the gene. The genes affected are COL1A1, COL1A2, CRTAP, and P3H1.
Osteoporosis is commonly known around the world as the numbers continue to increase every year. Osteoporosis is known to cause problems in middle aged women and occasionally effecting some men (1), currently reaching the number of 200million women diagnosed with osteoporosis (2). Arthritis Organisation states that anyone can get osteoporosis but women are about four times more likely than men to develop it, with two main reasons contributing to this fact. For several years after menopause occurs (ovaries stop producing oestrogen), the process of bone loss speeds up, increasing the chance of being diagnosed with osteoporosis. Yet men generally reach a higher level of bone density before the process of bone loss begins. Although
What is osteogenesis imperfecta (OI)? OI, formally known as Brittle Bone Syndrome, is a genetic bone disorder that affects the body’s ability to make bones strong which causes the bones to fracture easily, often without any apparent cause. OI affects the collagen in your body which not only makes your bones strong, but also helps the rest of your body stay strong as well. There are 8 different types of OI and all of them differ in range of severity. Type 1 OI is the most common and the mildest form of the 8. OI Type 2 is the most severe. OI can even vary greatly between individuals of the same family (“Osteogenesis Imperfecta,”n.d.). Most cases of OI are caused by a dominant genetic defect. This means that only one copy of the mutation is necessary
Living with Osteogenesis Imperfecta can have multiple effects on people. There are 8 known types of OI. The severity of OI is determined by what type the person has. People with Osteogenesis Imperfecta type 2 have it the worst due to it being the most severe type.
The term “Osteogenesis Imperfecta” means imperfect bone formation. OI is a genetic bone disorder that results in weak, fragile bones that break easily. OI can also cause muscle weakness, brittle teeth, and hearing loss. There are eight recognizable forms of
Breaking a bone is an injury that some people experience maybe once or a few times throughout their life, but for the people who are diagnosed with osteogenesis imperfecta, their lives are very different. Osteogenesis imperfecta (OI), otherwise known as brittle bone disease, is a genetic disorder that causes bones to break very easily with little to no apparent trauma. Dealing with broken bones often becomes the norm for people who are diagnosed with this condition. The severity between different types of OI can range from mild to very severe, causing death before or shortly after birth. Although OI is rare, the people diagnosed often have other associated health problems with their joints, skeletal structure, and dental health.1 OI affects