Introduction
Osteogenesis imperfecta, also known as “brittle bones disease,” is a rare genetic disorder that affects the body’s production of type I collagen, which is the major protein of the body’s connective tissue. Generally, people affected with OI either have too little of type I collagen, or the quality of it is poor. Collagen defects account for about 85%.1 However, proteins in the bones may be affected in some of the more uncommon forms of OI. Because of this defect, people with OI have fragile bones, which break easily without an apparent cause.
Discussion
It is estimated that one out of 12,000 to 15,000 babies are born with OI.1 Males and females of all races and ethnicities are equally affected with OI. At this time, the exact number of Americans with OI is unknown, but the estimated range is between 20,000 and 50,000 people.2
Typically, the genetic defect is dominant and involves the COL1A1 and COL1A2 genes. There have been over 800 mutations of these genes discovered, and they are located on chromosomes 7 and 17.3 Because the majority of OI cases are from a dominant mutation, there is a 50% chance that a person with OI will pass it on to his or her children. Although, the majority of children with OI inherit the defective gene from one of their parents, the severity and symptoms can vary greatly between parents and their offspring. Sometimes, children with OI are born into a family with no history of the disorder. This percentage is approximately 35%.4 Estimates suggest that 7% of children with unexplained fractures have an underlying medical condition.
Osteogenesis imperfecta is classified by type. In 1979, Dr. David Sillence developed this classification system. Sillence’s system is based upon method of inherit...
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...Medication may also be given. The type of medication is called bisphosphonates, which are given by mouth or intravenously. Bisphosphonates reduce bone resorption. Studies are still being done on this treatment option. There is also research being done on possible stem cell treatment for OI.
Prognosis
Depending on the severity and number of symptoms, the prognosis for someone with OI can vary. The two most frequent causes of death for someone with OI are respiratory failure and accidental trauma. OI is a lifelong disease, but most adults and children tend to lead productive lives.
Conclusion
Osteogenesis imperfecta is a chronic disorder, and living with the condition can be stressful at times. However, those affected with OI tend to lead happy and successful lives. Unfortunately, the disorder is incurable. Hopefully, with continued research, a cure will be developed.
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder (Kartal-Kaess et al., 2010). This means that the disorder is hereditary; an individual can only get the disorder if one of the parents has it and passes it on to the offspring. The main characteristic of this disorder is the hardening of skeletal muscles, connective tissue, tendons, and ligaments (Kartal-Kaess et al., 2010). The skeletal muscles, connective tissue, tendons and ligaments start to progressively become bone. Skeletal muscles, connective tissue, tendons and ligaments are places where bone does not grow in regular individuals that do not have FOP. Other characteristics of FOP include benign tumor composed of bone and cartilage in the tibia, abnormal growth on the cervical spine, wide and small femoral necks and hearing loss (Kartal-Kaess et al., 2010).
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
Bone contains an inorganic component composed of mineral salts, primarily calcium and potassium, and an organic component made of collagen, a complex protein that is found in various forms in bone and other connective tissues. According to Wolff’s Law, bone is capable of adjusting its strength in proportion to the amount of stress placed on it. When young, healthy people participate in exercise programs for extended periods of time, their bones can become more dense through increased deposition of mineral salts and the number of collagen fibers. On the other hand, if bones are not subjected to mechanical stresses, as in individuals with sedentary lifestyle or
Osteogenesis Imperfecta (OI) is a disease that is commonly referred to as brittle bone disease. Children with OI tend to have more fragile bones than children who are not affected and are very susceptible to bone fractures. With the correct support and proper management, the patient and their family can live relatively normal and happy lives.
Osteoporosis is a condition, in which bones are weak from deterioration, loss of bone mass, and quality-bone strength. Osteoporosis usually triggers postmenopausal women (women who have not had their period for a whole year), or older men and women. Some risks both older men and women endure when experiencing Osteoporosis are decrease of calcium and bone fractures. These symptoms or effects can all be caused by weight loss, smoking, age, ethnicity, genetics, medications, bone structure, and certain diseases that can later on contribute to Osteoporosis, such as rheumatoid arthritis. Osteoporosis may be prevented by going to drug therapy to stop alcoholism and smoking, a sufficient amount of calcium intake, and exercising; such as jogging, walking,
Osteoporosis is a serious disease that leads to a faster than normal loss of the bone density, which puts the bone at a higher risk for fractures. In order to understand the causes of Osteoporosis, it is important to understand how bones are formed. Bone is a living tissue that is made mainly of collagen, calcium phosphate, and calcium carbonate. The mixture of collagen and calcium gives the bone strength and flexibility. The body deposits new bones and removes old ones; moreover, there are two types of bone cells that control the reproduction of bones. Cells called osteoclasts breakdown bone tissues thus, damaging the bone. Once the damaged bone is removed, cells called osteoblasts, use minerals including calcium and phosphate from the blood stream to make new healthy bone tissues. In order for osteoblasts and osteoclasts to work properly, hormones such us thyroid, estrogen, testosterone, and growth hormones are
Osteopenia can be seen as beginning stage of osteoporosis. Osteopenia is classified when bone density is lower than normal but not so low that it can be classified as being osteoporosis. It can be caused by several different diseases, conditions, or may be something that is natural to the person who has it. It can also be caused by eating disorders, and metabolism disorders. Chemotherapy and medicines such as steroids are also known to be causes as well as being exposed to radiation.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
Osteoporosis is a bone disease of that causes a decrease in bone mass. In osteoporosis the bones become weak and fragile. Since the bone mass is decreased, the bones have more of chance of fractures. The bone is continuously breaking down by cells which is known as osteoclasts and rebuilding by other cells known as osteoblasts. Osteoporosis happens once the reabsorption causes the bones to reach a fracture threshold. Any fall or lifting action that would not ordinarily bruise or strain the common person would break one or additional bones in somebody with severe osteoporosis. “Women of fair, freckled complexion with blonde or reddish hair, and women from northwest European background have a higher incidence of osteoporosis than the general population” (Rosdahl, 2012, p.1248). Osteoporosis most commonly happens in postmenopausal women. Some risk factors include age, menstrual status, smoking, sedentary lifestyle caffeine use, and alcohol consumption.
Osteoporosis is a systemic, debilitating disease of the skeleton, characterized by significantly decreased bone mass in combination with the deterioration of bone microarchitecture. Osteoporosis has three types of categories the first category is type 1 which occurs in women after menopause and results from declining levels of estrogen and other sex hormones in the body, this could also occur in men due to low levels of the sex hormone testosterone. Type 2 is called Senile Osteoporosis, which occurs in elderly men as well as elderly women because of decreased bone formation due to aging. Type 3 is caused by long term use of medication usually with steroids and drugs to treat elipsy. Osteoporosis which literally means “Porous Bone”,
...a casein-free diet was 19.9ng⁄mL, for participants not on a casein-free diet it was 19.6ng⁄mL, and for controls it was 17ng⁄mL. There were no differences in the measurements of 25 (OH) D in all groups. About sixty-one percent, fifty-four children, had concentrations of less than 20ng⁄mL. This is the minimum concentration recommended by the American Academy of Pediatrics to ensure good bone health. These children could be at risk for problems associated with vitamin D deficiency. This includes concerns with bone health and calcium and phosphorus metabolism. Children with autism spectrum disorder are limited to what activities they can do and usually are not exposed to much sunlight causing them to be at a greater risk. Understanding the needs and taking preventive measures for children with autism will help reduce the risk of health problems as they enter adulthood.
The skeleton helps to support, move and protect the human body and its health is necessary for normal functioning. Because of the skeleton’s importance, diseases of the skeletal system can be debilitating. For example, a group of genetic disorders called osteogenesis imperfecta affects about 50 000 people in the United States alone Ref. The body of a person with osteogenesis imperfecta (OI), or ‘brittle bone disease’ cannot properly form bones due to a mutation preventing them from producing a healthy amount of collagen, causing bones to fracture easily. This paper provides an overview of osteogenesis imperfecta’s symptoms, genetic causes, diagnosis, and its development. treatment and effect on a patient’s life.
If the parent has a faulty gene, the chance that their child will have disabilities is 50 percent. Because the signs and symptoms often first appear in middle age, some parents may not even know they carry the gene until they have children growing up. If the child does not inherit from the defective gene then they will not pass down the Huntington’s disease to the next generation. In 2006, researchers discovered the protein expressed by the Huntington gene interacts with other proteins as cholesterol accumulates in the brain. Ask about changing any emotional or intellectual habits.
In the modern society with high technologies and immense amount of medical knowledge, various diseases’ have absolute treatments and diagnosis. Most of the time, patients would not have to worry about whether the disease will harm them again after their treatments. Unfortunately, some diseases can not be treated. The bone disease, osteogenesis imperfecta, is one of those rare, genetic disease that scientists had not found an absolute treatment that can eradicate it and ease the patient’s difficulties.
Fractures are life-threatening to aged people having the metabolic bone disease OSTEOPOROSIS, in which bones become porous and brittle. A person, mostly women, having osteoporosis may break a hip during a fall and possibly die from complications. Birth Defects Congenital bone diseases constitute a wide spectrum, ranging from the unimportant--for instance, mild bow legs--to severe lesions, such as spina bifida, in which the lower end of the spine fails to develop properly and the baby is born with paralysis and misshapen vertebrae. Congenital diseases may have hormonal bases: for example, fibrous DYSPLASIA, in which fibrous tissue replaces that of some bones, often results in bone deformity; in addition, some girls with this disease physically mature so early that they are capable of pregnancy and childbirth at the age of seven.