There are many well-known disabilities and osteogenesis imperfecta is not one of them. Thus, this disability will be the topic of my investigation. Although osteogenesis imperfecta, also known as brittle bone disease, is not a widely-known condition, having knowledge on this rare condition will be helpful in case I encounter a child or adult with this condition. By having knowledge on rare conditions like osteogenesis imperfecta, better care and understanding can be provided to someone who is encountering this condition. All children and families deserve patience, understanding, and knowledgeable teachers, regardless if a child’s disability is well-known or not. Osteogenesis imperfecta refers to “…a genetic disorder characterized by bones …show more content…
It usually inherited through an “…autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition” (NIH). Sometimes, the genes are mutated as well. The specific genes that are mutated are, “…the COL1A1 and COL1A2 genes…which are responsible for more than 90 percent of all cases of osteogenesis imperfecta. These genes provide instructions for making proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body” (NIH). The severe lack of collagen causes the bones to become very, very fragile. There are also rare cases of OI where the specific affected gene(s) remain unknown. Although there are some answers to the cause of osteogenesis imperfecta, some cases remain undetermined and doctors are still researching …show more content…
I determined that they were credible because they are peer-reviewed, government endorsed and funded, they provide information for doctors and other medical providers, and the sources are written solely by doctors knowledgeable about osteogenesis imperfecta. I also briefly looked at the Osteogenesis Imperfecta Foundation website. This was another credible source because the website stated that the National Institutes of Health helped write and prepare the “Fast Facts on Osteogenesis Imperfecta” page. I found these resources after looking up “osteogenesis imperfecta” on a search
There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).
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).
The gene which is responsible for this disease, FGFR3, is located on chromosome 4 at 16.3, which is on the short arm near the telomere (4). Under normal circumstances, this gene forms fibroblast growth receptor 3 which interacts with a protein to begin a stream of signals that contribute to bone development and maintanence; it is also thought that this gene is also important in other tissue development (6, 7, 10-12). Some of the known pathways involved with FGFR3 are STAT1/3, STAT5, MEK1, ERK1, and MAP kinase signaling. Chondrogenesis and osteogenesis are two processes managed by these pathways and are greatly affected by a mutation (13-15). The sections of these pathways that involve and are affected by the mut...
Osgood-Schlatter Disease or syndrome (OSD) is an irritation of the patellar ligament at the tibial tuberosity (Dhar). Osgood-Schlatter Disease is claimed by some to not actually be a disease (Sims). But is rather a collection of symptoms that involves the tibial tubercle epiphysis (Sims). Osgood-Schlatter Disease affects as many as 1 in 5 adolescent athletes (Diseases and Conditions: Osgood-Schlatter Disease). Some other common names for this disease are Osteochondrosis, Tibial Aponphysitis, Tibial Tubercle Apophyseal Traction Injury, Morbus Osgood- Schlatter, and Rugby Knee (Dhar). “This can cause multiple sub-acute avulsion fractures along with inflammation of the tendon, leading to excess bone growth in the tuberosity and producing a visible lump which can be very painful when hit (Dhar). Activities such as kneeling may irritate the tendon further (Dhar).”
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
Imagine living in a world where everything is super-sized. Imagine having to step on a stool to crawl into bed, or having to climb onto a shelf to be able to reach a light switch. Most of all, imagine having to look up to your much taller younger sister when she speaks to you. Situations like these are what Ivy Broadhead, a teenager with achondroplasia, have to go through everyday.
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.
Achondroplasia is a genetic bone growth disorder. It is the most common form of disproportionate short stature, dwarfism. It occurs in one in every 15,000 to 40,000 births. The disorder is inherited in an autosomal dominant manner, but over 80% of cases are spontaneous mutations. The risk is increased with advanced parental age. Achondroplasia generates from a mutated FGFR3 gene. Unfortunately this disorder cannot be cured, but research is being dedicated to finding a cure. (Learning about Achondroplasia, May 11, 2012)
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
My patient is a 55-year-old woman presenting to the clinic complaining of episodes of feeling “hot and sweaty” during the day and is waking up at night soaked with perspiration. Because her sleep is so disrupted, she is tired all day and is having trouble concentrating at work. She says that the episodes are becoming unbearable and is seeking treatment for them. In a very thorough assessment I will gain information in regards to possible Osteoporosis.
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.
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.