How Osteogenesis Imperfecta Is A Disease That Effects Children

Signs and symptoms vary based on the type of Osteogenesis Imperfecta the patient has. The most common type is Type I. This is a mild type of the disease and often is not diagnosed until adulthood. Some common symptoms are brittle teeth, hearing loss in some cases, blue sclera, easy bruising, and mild delay in motor skills. In most cases there is little or no bone deformity, normal height,

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

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

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

“This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.” (Genetic Home Reference, 1). One indicator of the presence of the disease is the malformation of a newborn’s hallux, the hallux of a newborn will have an abnormal angulation facing the median of its foot. “Other skeletal malformations of the cervical spine and ribs and the abnormal development of bone at multiple soft tissue sites may lead episodically to stiffness in affected areas, limited movement, and eventual ankylosis of affected joints (neck, shoulders, elbows, hips knees, wrists, ankles, jaw, often in that order).” (NORD,1). FOP is a very rare genetic disorder, “It was first identified in the 17th century. Of an estimated 3000 affected individuals worldwide, there are approximately 800 known patients. This disorder affects both genders and all ethnicities.” (NORD,1). Since the disease is a genetic one, it is not spread through a contagious pathway. It results from an autosomal dominant pattern. Mutations in the ACVR1 gene cause fibrodysplasia Ossificans Progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors.” (Genetic Home Reference, 1). Experts, who have done extensive research believe that the

Osteoporosis is a systemic disease that causes bones to be frail and fragile. People of all ethnicities are pretentious to this type of disease. When they are affected by this disease, they are at risk for their bones to break or fracture. It can even bend the structure of the bone, which in turn makes the person look like they are hunched over and cannot sit or stand upright no matter how hard they try. There are usually no signs or manifestations once this disease has developed in the body. However, once it has attacked the body, there may be some pain due to the broken bones or crumpling of the spinal cavity. Also, you may notice a bent-over bone structure in the person experiencing symptoms of osteoporosis. It is more likely to affect females than males. The reason it affects women more than men is because when women are pregnant, the baby absorbs most of the nutrients from the mother. That leaves the mother with very little nutrients. That is why after giving birth, women are advised

When diagnosed with this condition, people need to know that this condition cannot be cured. A person can only seek treatment or have a change in lifestyle. Some treatment options a person can seek are; therapy, getting plenty of exercise, and taking medications to relieve pain. If the condition worsens, joint replacement surgery may become an option for some.

The physical signs of osteogenesis imperfecta type I include complaints of muscle weakness, loose joints and a scoliosis or curvature of the spine. Blue Sclera, when the outer coating of the eye that should be white appears blue, is a tell-tale sign of having osteogenesis imperfecta. There is also a chance of loss of hearing that is usually manifested in young adulthood and sometimes present in early childhood. Tooth dentin is weakened, so early assessment of teeth with a dentist is beneficial. Type II OI involves the skeleton and most will die in utero. Type III OI is when kyphoscoliosis

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.

Osteogenesis imperfecta, literally means imperfectly formed bone. This disorder has a genetic effect that impairs the body’s ability to make strong bones. Some people with this disease have a more severe condition than others. Bones break easily and whoever has this disease can break hundreds of bones in their lifetime, or someone with less severe condition, can break a few bones.

Osteoporosis is a disease which is common in older women due to lack of estrogen production and lower calcium levels. Osteoporosis is often referred to as a silent disease as an individual is usually asymptomatic. This disease is one that make the bones pours and brittle due to inadequate levels of necessary maintenance hormones. Due to bone formation occurring mostly in childhood, it is essential to target the younger population with educational intervention programs. If you can get the students to understand that preparing their bones while their young is important, you can increase their level of self-efficacy and perceived seriousness about such diseases. Not preparing your bones can make one more susceptible to such diseases like osteoporosis.

The most common bone disease is osteoporosis. The bones become weak and are more likely to break. It is most common in elderly women, though anyone can get it. A similar disease is osteopenia which is low bone density. There can be some genetic factors that lead to these two diseases, but mostly they result from a poor diet and an unhealthy lifestyle (Medline Plus).

Doctors can look a standard x-ray to help them diagnose osteogenesis imperfecta. This condition also shows evidence of thin bones (Osteogenesis Imperfecta Foundation, 2015). The patients who are diagnosed with OI x-ray may also reveal previous fractures in various stages of healing (Osteogenesis Imperfecta Foundation, 2015). Osteoporosis and fragile bone fracture is the hallmark feature of OI (Radiopaedia,

However, despite its rarity, it can have extremely devastating effects on both the patient and their family. Bone growth is accompanied by painful inflammation called “flare-ups” which lead to swelling and discomfort. Movement can become severely restricted once bone grows into joints, which cause balance and mobility problems that can lead to injury due to falling. Such a minor injury can trigger more flare-ups. These flare-ups are caused by mutations in the ACVR1, or the Active Receptor 1 gene, which helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone, called ossification, that occurs in normal skeletal maturation from birth to young adulthood. Researchers believe that a mutation in the ACVR1 gene could leave it constantly turned on, causing overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva. Though the gene can be inherited from a parent, (individuals with FOP are 50% more likely to pass it on to their children) most cases occur at the time of conception and start showing symptoms around age two or three. Most people with FOP are bedridden or will need a wheelchair by their 20’s and have a lifespan of about 40

Osteopathic treatment is a manual and safe therapy, in which the professionals use several hands-on techniques for the overall well being of the individuals. They evaluate the root cause of the patients after interviewing them. The diverse healing methods used to ease the discomfort are manipulation, soft tissue work, ultrasound and exercises.