Marfan Syndrome Papers

Treatments for fibromyalgic patients may include any and/or all of the following: pain and sleep medication, anti-depressants, healthy diet, physical therapy, and

Multiple sclerosis has conquered the lives of many of its victims, one of which includes Nancy Mairs. However, Mairs writes an essay describing her experience with the disease and how it has not affected her negatively, as society assumes about the disease’s effects. Mairs does not write her essay to make her audience feel pity for her disease, yet writes to allow people to be more accepting of the disease and of people that have it. She incorporates the word “cripple” to describe the strength MS gave her, rather than politically correct or polite words such as “handicapped” or “disabled.” Mairs’ rhetorical structure in her essay allow readers to see a courageous and empowered author in which she has the ability to persevere through experiences

Marfan syndrome is a connective tissue disorder that is caused by an increase in the production of

B. Treatments: There is no cure for this disorder, but it can be managed. Being able to live a “normal as possible life” is one of the main focus of treatment (Somatoform Disorders). They will in all probability still have some pain and symptoms. There is one good thing; about this disorder it will not shorten your life. Your physician may prescribe medicine for your symptoms, but in most cases it is not needed. Making your regularly scheduled appointments will help maintain your health.

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

Myotonic mucular dytrophy- develops slowly and can be caused through genetics. It is the most typical form of muscular dystrophy found in adults beginning to become afflicted. Muscles within the face and neck are the first to contract it. Myotonic MD is associated with difficulty with muscle relaxation following contractions. Commonly known by its nickname "Steinert's Disease".

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

Myopia (nearsightedness) is one of the most common symptoms of the disease. Other symptoms occurring in the eyes include dislocated lens, detached retina, risk of early glaucoma and/or cataracts, and, if not treated, can result in vision loss. Symptoms of the cardiovascular system include a stretched or weakened aorta (aortic dilation or aneurysm) due to defective connective tissue and defects in heart valves. An example of a valve defect is mitral valve prolapse in which one or both cusps of the mitral valve swells or collapses into the left upper atrium when the heart contracts. Cardiovascular symptoms can lead to arrhythmias, congestive heart failure, and chest pain. There are also some effects on lungs, albeit not as common as other symptoms, in which the air sacs can become stretched and lead to an increased risk of lung collapse. The nervous system is also affected as dural ectasia, where the dura that covers the spinal fluid stretches and weakens, eventually leading the bones of the spinal column to wear away. Other symptoms are more obvious and affect the skeletal and connective tissue systems. Those with Marfan syndrome commonly have stretch marks and overgrowth of the

Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be grown together, arms, and legs may not be fully developed. As of today, there is one known risk factor that has been found within the first year of the child’s

Children who have DMD have mobility problems and are usually wheel chair dependent between ages 4 to 10. Overtime, the loss of dystrophy can lead to cardiomyopathy due the degeneration of the heart muscle. Muscles on the lungs and diaphragm can also weaken which can lead to poor respiratory health. This can lead to “shallow and labored breathing and a build-up of mucus and bacteria. As a result, children with DMD are prone to severe chest infections” (Pearce, 2012). The decrease of oxygen in the blood can affect sleep and can lead to difficulty in concentrating and staying

Living with DM1 usually has a major impact on your life. In some cases, you can be a carrier of DM1 and not be affected at all by it. But, in the majority of cases, it really puts a damper on life. “Some people may experience only mild stiffness or cataracts in later life. In the most severe cases, respiratory and cardiac complications can be life threatening even at an early age. In general, the younger an individual is when symptoms

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.

The sensory-motor effects of MS can be very debilitating. According to the National Institute of Neurological Disorders and Stroke (NINDS). MS often begins with numbness in the legs and hands. This, along with weakness and spasticity, is one of the hallmark signs of MS. As the disease progresses, many patients suffer from other motor problems associated with the weakness and spasticity. Patients may have trouble with coordination and balance. This may eventually result in paralysis, either partial or full. Another symptom of MS is visual problems. According to Rose et al., patients who show visual problems may do so in a variety of ways. They can range from blurred vision to blindness. These problems are compounded by exposure to heat. In addition, fatigue and stress can also cause the symptoms to worsen. Fatigue is often a unavoidable consequence of the disease. People with MS often spend much of their energy simply trying to control their movements. They have little energy

mutations have been accounts for about five of cases. Several gene gene linked identified since 1993, and current research identified further with MND People with MND may: Develop generalised paralysis (paralysis of both sides of the body) Lose speech and have difficulty swallowing Experience mild cognitive behavioural change Become increasingly dependent on others for all aspects of day-to-day activity Impact of MND on carers As MND progresses, there will be Rapidly changing physical ability of the person with MND, and consequently, increasing assistance required of the carer Increasing levels of support required for the carer and the person living with Motor Neurone Disease Emotional demands of caring and being cared for Treatment for MND