Types And Types Of Osteogenesis Imperfecta

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.

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

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..

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

Researchers believe the mutation of this gene causes too much bone to grow instead of muscle.

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

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,

Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.

Affecting only one in every 2 million people Fibrodysplasia ossificans progressiva (FOP) is one of the rarest genetic disorders of congenital skeleton malformations; identified by congenital malformation of the big toe at birth. Flare-ups occur by soft tissue injury followed by immobility. A mutation in the activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), and bone protein (BMP) type I receptor were reported in all cases of FOP, making this a specific disease causing mutations in the human genome (Kaplan, 28 O). However, there is no current cure for FOP there are new developing treatments. The benefit to studying this rare

An example of one such category of muscular dystrophy is distal muscular dystrophy. distal muscular dystrophy causes atrophied muscles due to a damaged DYSF or ANO5 gene. The DYSF gene aids in the creation of dysferlin. Dysferlin is found in the thin sarcolemma of the muscle tissue which is thought to aid the sarcolemma in repairing muscles. Since the production of dysferlin is inhibited by this form of muscular dystrophy, the muscles are not able to be repaired, leading them to become progressively more damaged and ineffective over time. Abnormalities in the other ANO5 gene, which produces anoctamin-5 affect muscles by reducing if not eliminating said protein. ANO5 is thought to provide transport for chlorine ions to the muscle cells of a muscle. These two genetic disorders are usually closely linked and it is common for the abnormality of one gene

Fibrodysplasia ossificans progressiva (FOP) is defined as a rare genetic disorder that causes soft tissues to transform permanently into bone. These bones grow abnormally in the muscles, tendons, ligaments and other connective tissues, forming bridges of extra bone across the joints. As a result of the abnormal bone growth, movement in those areas affected by FOP is greatly limited and sometimes impossible. The condition affects many areas of the body, commonly the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles and jaw. Similarly to Marfan Syndrome, FOP is an autosomal dominant condition, meaning that a person needs only to get the gene for FOP from one parent to inherit the disease. However, in a lot of cases, FOP occurs as a mutation and then has a 50 percent chance of passing it on to his

Fibrodysplasia ossificans progressiva is caused by the genetic mutation of a Bone Morphogenic Protein (BMP). BMPs are proteins and are important for the formation of bone and the reconstruction of fractures, and are tied to a receptor called activin receptor type IA (ACVR1). This receptor has been traced back to chromosome 2q23-24. (papers), 2012)

Classical, Hypermobility, Vascular and Arthrochalasia forms of EDS are transmitted as an autosomal dominant trait. Kyphoscoliosis and Dermatosparaxis type of EDS are transmitted as an autosomal recessive trait. Classical EDS results from a faulty collagen V genes. A decrease in collagen synthesis generally results in defective tissue mechanical properties and is mainly characterized by skin hyper extensibility (Bancelin, 2015). The Vascular Type of EDS is caused by structural defects in the proa1 (III) chain of collagen type III. Kyphoscoliosis Type EDS is the result of a deficiency of a collagen-modifying enzyme (lysylhydroxylase). The Arthrochalasia Type of EDS results from a mutation which leads to the deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. Dermatosparaxis Type EDS is caused by a deficiency of procollagen I N-terminal peptidase (ENDF,

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

Paget’s disease, also known as Osteitis Deformans, this is a genetic disease that causes an abnormal processes of breakdown, reabsorption and rebuilding of osteocytes. This abnormal process effects focal bone remodeling and can lead to irregular structure and altered mechanical properties of the bones themselves. The bones become weak and results in pain, arthritis, bone deformities and fractures; however, it is still unclear of what the