Marfan Syndrome Research Paper

Improved Essays
Marfan Syndrome Near the end of the 19th century a french doctor Antoine Marfan was the first doctor to notice the effects of a common disorder (Atinder). Marfan syndrome is a genetically inherited disorder that affects the connective tissues that exist through the body. Specifically, Marfan syndrome alters the FBN1 gene and this affects the production of fibrillin (NHGRI). Fibrillin is a protein that is produced by the body to give strength to connective tissue. Without this protein, connective tissues are susceptible to breaking, ripping, or tearing (Atinder). Some areas that are more directly affected by Marfan sydrome are the heart, eyes nervous system, lungs, upper limbs, lower limbs, spine, check, joins, teeth, feet, and hands. Common features of Marfan syndrome very in severeness. On the less sever side of the spectrum, people with Marfan can suffer from disproportionately long upper limbs, lower limbs, and hands. Moving up you can find vision problems (nearsightedness - in some cases extreme), crowded teeth, flat feet, and sunken or protruding chest (The Marfan Foundation). All of these have the possibility of progress into much greater problems. A sunken chest can develop to the …show more content…
Mild treatment may include laser eye surgery or a corrective brace. The more severe cases of Marfan may result in necessary corrective surgery to the back or spine or heart surgery to prevent or fix a rupture in or near the aorta. With Marfan syndrome come a lifestyle change to prevent tearing of connective tissues. This may mean refraining from contact or competitive sports and avoiding caffeine or medicines containing decongestants (NHGRI). People with Marfan syndrome who are inclined to partake in a sport should look towards swimming. The water allows a space cushion from impact, as well as the fact that it is a solo sport that requires no human

Related Documents

  • Improved Essays

    Nt1310 Unit 1 Assignment

    • 449 Words
    • 2 Pages

    My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…

    • 449 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Part I Note anything unusual about Ellie’s behaviour or appearance There are two references to shaking hands in the passage. Additionally, she seems to be very thin and have large, perhaps slightly bulging eyes. Behaviourally, she seems stressed and despondent, unable to concentrate or retain information, and and seems to be suffering from insomnia. She then gets a sinus infection, which is perhaps a sign of a compromised immune system.…

    • 1725 Words
    • 7 Pages
    Improved Essays
  • Improved Essays

    Mostly males are affected by this because females are unlikely to have two different copies of the gene (Duchenne and Becker n.d.). Symptoms that can come along from Duchenne muscular dystrophy are that children affect are most likely to start late at walking (Signs and Symptoms n.d.). Toddlers may have larger calf muscles than their peers because there muscle tissue is irregular. They also may be clumsy and fall many times. As children become a little older, they might start to walk on the balls of their feet and they might have difficulties raising their arms (Signs and Symptoms n.d.).…

    • 372 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    Akhenaten, also known as Amenhotep IV was the Pharaoh of Egypt in the 18th century. He was married to Nefertiti and had six girls with her. Four of them died at a young age from an unknown disease. However, they are believed to have passed away from a plague that was going around Egypt at the time. He also had a few other wives, but they were unnamed.…

    • 1671 Words
    • 7 Pages
    Great Essays
  • Improved Essays

    Canavan Disease is a progressive deadly gene linked neurological disorder. In 1931, Dr. Myrtelle Canavan, who was a physician and medical researcher, first described the syndrome. Dr. Rueben Matalon discovered the defect and duplicated the gene for the Canavan Disease. The disease starts in infancy, and at birth, most children with the disease appear ordinary. Within the first few months of life, children exhibit advanced physical and mental capabilities.…

    • 619 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Marfan Syndrome Essay

    • 485 Words
    • 2 Pages

    This disorder can affect many parts of the body since connective tissue is found all over the body. Bones, joints, eye, skin, lungs, the heart and blood vessels are few of the body parts Marfan syndrome affects. Marfan syndrome is caused by a mutation in a gene called the fibrillin gene. This mutation affects the way the body produce a protein which helps give connective tissue its elasticity and strength. About…

    • 485 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    The weakness of the muscles may vary depending on which type of Myotonic Muscular Dystrophy the person has and the age of the person. Another symptom is, it may be hard for the person to relax their muscles ex: people holding hands, for a person with Myotonic Muscular Dystrophy it may be difficult for them to let go of the other person's hand. The heart may also begin to weaken and an abnormal heart rhythm may occur. Muscles used for breathing will also weaken over time.…

    • 2260 Words
    • 10 Pages
    Improved Essays
  • Improved Essays

    McArdle syndrome, also known as glycogen storage disease type V (GSD V) is a rare genetic autosomal recessive disease of the muscle tissue or myopathy caused by the body’s inability to produce phosphorylase; “an enzyme that catalyzes the formation of glucose-1-phosphate from glycogen.” (Taber’s Cyclopedic medical Dictionary). Without it, sugar or glycogen stored in the muscles cannot be used to produce energy resulting in fatigue, severe muscle pain and cramping after momentary exercise. “Typically, patients with GSD V disease have exercise intolerance with premature muscle fatigue, exercise-induced muscle pain in working muscles (contractures), and recurrent myoglobinuria.” (Vorgerd, M., & Zange, J., 2007) McArdle syndrome usually goes…

    • 301 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    The dystrophin gene is a major gene on the x chromosome, resulting in MD being more common I males as they only have one copy of the dystrophin gene while females have two, effectively leading to 1 out of every 3500 males being born with MD (Stefan Kochanek, 1995). Early Symptoms that may be seen in some Muscular Dystrophies are; pain and stiffness in the muscles, difficulty with running and jumping, walking on toes, difficulty sitting up or standing, learning disabilities, such as developing speech later than usual, and frequent falling. Some of the later symptoms that are more likely when the person has had the disease for a longer period of time may be; the inability to walk, the shortening of muscles and tendons limiting movement, breathing difficulty, and in some circumstances breathing can get so severe, assisted breathing may be necessary, and also difficulty swallowing with a risk of aspiration pneumonia (Tim Newman, 2017). Currently there are no treatments to cure Muscular Dystrophy, however, there are medications to help reduce pain, and special aids such as therapy and surgeries to help maintain some function of the muscle for longer. While many of the different MDs have vastly different symptoms, most of them have quite short life expectancies.…

    • 673 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    Although there is no cure for muscular sclerosis there just a few treatments that can help control the symptoms. A variety of medications are prescribed in several forms such as orally, intravenous or by injection. Treatment for attacks includes corticosteroids to reduce nerve inflammation. Medications for depression, sexual dysfunction and bladder and bowel control may also be prescribed. Medications administered by injection subcutaneously or intramuscularly are Beta interferons for relapsing-remitting and would be taken every other day to once a week.…

    • 293 Words
    • 2 Pages
    Decent Essays
  • Great Essays

    Essay On Microcephaly

    • 1408 Words
    • 6 Pages

    The following problems associated with microcephaly span from benign to malignant and are usually permanent. Seizures, complications with movement and balance, hearing loss, and eyesight issues can all occur in children with microcephaly. (Facts 3) Other problems associated with microcephaly are dwarfism, facial distortions, and hyperactivity (4 Microcephaly 4). Children with microcephaly may also have terribly high-pitched crying, spasticity, and involutary muscle contractions (2 Microcephaly 5).…

    • 1408 Words
    • 6 Pages
    Great Essays
  • Improved Essays

    The most common, deadly genetic disorder in the United States is cystic fibrosis (CF), which causes the lungs to be clogged up by a thick, sticky mucus. This may also lead to infections and blockage of the pancreas (National Human Genome Research Institute). The Cystic Fibrosis Transmembrane Regulator (CFTR) gene causes this genetic disorder and was discovered in 1989. Roughly 30,000 people are affected by this genetic disorder in the U.S. and while there is a lot of promising research, a cure is yet to be discovered (National Human Genome Research Institute).…

    • 701 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Multiple sclerosis (MS) is a muscular disease that affects the central nervous system (CNS) which consists of the brain and the spinal cord. This disease was discovered by Dr. Jean Martin Charcot. Eventually, improvements in microscopes helped doctors in the search of understanding the disease. In 1916, a Scottish doctor named James Dawson was able to clearly describe the inflammation after viewing the brain cells of a patient with multiple sclerosis through a microscope. Over the years, numerous clinical trials involving potential treatments and diagnostics took place in the 1990’s.…

    • 896 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    The adult human skeletal system consists of 206 bones, in which are held together by a network of ligaments, tendons and cartilage that connect them together. Besides movement the skeleton also provides protection to vital organs such as our brain, our heart, lungs and abdominal organs. Although our skeleton provides us with such protection it is still prone to injury, wear and tear, infections, tumors and other conditions that can damage bone and become life threatening. OSTEOMYELITIS Osteomyelitis is an infection of the bone or bone marrow; inflammation due to infection. Osteomyelitis is caused by a bacterial infection.…

    • 1479 Words
    • 6 Pages
    Improved Essays
  • Improved Essays

    I was keenly aware of the importance of Genetics in health care early in my time studying Medicine and later have gained profound knowledge of it as well as Cell Biology and Molecular Biology through in-depth Biomedical studies. However, it is during my current study on the genetic disorder Neurofibromatosis type 1 (NF1) when my passion for the Laboratory Genetics and Genomics was lighted. My passion for the Laboratory Genetics and Genomics was lighted while I am conducting current studies on the genetic disorder Neurofibromatosis type 1 (NF1). However, it has long been deeply rooted since I was keenly aware of the importance of Genetics in health care early in my time studying Medicine and have gained profound knowledge of it as well as Cell…

    • 726 Words
    • 3 Pages
    Improved Essays