Essay On Osteogenesis Imperfecta

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).

Spinal Muscular Atrophy is classify as an interneuron abnormality and loss of the anterior horn cells in the spinal column. SMA is categorized into three subtypes with the classification embedded on the motor milestone achieved. Spinal type I (Werdnig-Hoffman disease) child is to weak that they never learn to sit, type II child learn to sit but never learn to walk without assistive device, and type III (Kugelberg-Welander disease) child can walk independently (Tecklin, 2015).

These types of treatments can be very successful for one with a not so severe case of Osteogenesis Imperfecta, however someone with a more severe case may find it difficult to treat the disease. According to Medline Plus, Type I Osteogenesis Imperfecta is the mildest type and it is easiest to live with (Osteogenesis). Treatments such as physical therapy and bisphosphonates will help treat this type, and one with this type will have a normal life expectancy. Type II is the most severe case. “With Type II Osteogenesis Imperfecta a child will most likely die within the first year of being born” (Osteogenesis). Type III is more severe than Type I, many fractures

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,

The hallmark feature of Osteogenesis Imperfecta is fragile bones that fracture easily. Osteogenesis Imperfecta affects both bone quality and quantity (i.e. bone mass).

Type I: develops as the skull and brain are growing. Tissue extends into the spinal canal, pushing the skull downwards

It is characterized by the severe skeletal deformity, weak bone mineralization and multiple fractures intrauterine, prior to birth. OI type III is the most severe of the 4 most common that is compatible with life after the perinatal period. A progressive skeletal deformity is present, sometimes present in the birth. Due to this, in the adult age those affected usually present short stature, in addition to being generally dependent on wheelchairs for the rest of their lives, without treatment. Patients often present with fractures soon after birth and in the adult period. Dentinogenesis imperfecta is very common, mainly in the first dentition, such as progressive hearing loss with age. The most variable group clinically, In OI type IV, the effect goes from mild to severe. Usually dentinogenesis imperfecta, not so much the hearing loss; The height is relatively low according to the degree of skeletal deformity, sclera is usually normal, and most of the patients can wander. OI type V has moderately deforming, without blue sclera or dentinogenesis imperfecta. It is characterized by hypertrophic calluses at fracture sites and the mineralization of interosseous membranes. The molecular cause is unknown but heredity appears to be autosomal dominant. OI type VI goes from moderate to severe deforming, without blue sclera or

Osteoclasts break down bone tissue during the remodeling of bones. The malignant infantile form happens when an infant inherits a copy of the defective gene from both of the parents. For the adult form to occur, however, only one defective gene is necessary. Most of the time, however, the inherited gene is not what causes osteopetrosis. Normally the adult form is caused by a newly formed defective gene that came about at the time of

Chiari Malformation has four types, which range in severity. The severity is from under-formation (malformation) of the cerebellum to most severe (a large amount of herniation). The first type is debated whether or not it is truly a malformation. The term Arnold-Chiari malformation is used for type II. The type that is most commonly found is Chiari Malformation type II. Chiari found this type in stillborn newborn babies, or

     Children will experience a combination of symptoms during the acute phase of the disease such as the joint pain, joint inflamation, and stiffness of the joints. Many also experience sleep disturbances and have difficulty falling asleep.

     Osteoporosis is a health ailment which causes bones to become so porous that they can break easily. Osteoporosis literally means 'porous bones'. The bones in our skeleton are made of a thick outer shell and a strong inner mesh filled with collagen [protein], calcium salts and other minerals. The inside looks like honeycomb, with blood vessels and bone marrow in the spaces between bone. Osteoporosis occurs when the holes between bone become bigger, making it fragile and liable to break easily. Osteoporosis usually affects the whole skeleton but it most commonly causes breaks or fractures to bone in the wrist, spine and hip.

Such diseases are more common in areas such as Great Britain, Pakistan, and India (Huether & McCance, 2008). “This disease is prevalent in elderly persons and in premature infants of very low birth weight” (Huether & McCance, 2008). Commonly Osteomalacia is confused with Osteoporosis. However, these two diseases, although similar, are not the same. “Osteomalacia results from a defect in the bone-building process, while osteoporosis develops due to a weakening of the previously constructed bone” (Mayo Clinic Staff, 2011).

Bone at the tissue level undergoes remodeling: it is continuously being resorbed and rebuilt (or formed). A negative balance between bone resorption and formation, frequently due to excessive resorption, is the basis of many bone diseases.

Osteoporosis is a condition when the bones become weak and brittle because the body loses