Introduction to Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is caused by the mutation of the necessary muscle protein dystrophin that occurs on the X chromosome, and due to the way the disease is inherited it usually affects males. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy. According to the US National Library of Medicine (www.nlm.nih.gov) the sons of females who are carriers of the disease (women with the defective gene, but have no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers, but very rarely
…show more content…
a girl will be affected by the disease. Prenatal testing options for pregnancies at increased risk are available when the disease-causing mutation has been identified in a family member, or if genetic links have been identified. Signs and Symptoms Symptoms of the disease can be detected before the age of 6 and can be noticeable as early as infancy.
The most typical symptom that appears is the delay of motor skills and milestones amongst children, such as standing and sitting on their own. There is the degeneration of the muscle along with progressive muscle weakness of the legs and pelvic muscles, which is associated with a loss of muscle mass called wasting. This muscle weakness causes a wobbling, unsteady gait and difficulty climbing stairs. Muscle weakness also occurs in the arms, neck, as well as other areas, but not as severe as in the lower half of the …show more content…
body. The calf muscles will begin to enlarge and the enlarged muscle tissue is then eventually replaced with fat and connective tissue as noted by the National Human Genome Research Institute (http://www.genome.gov/19518854). Muscle contractures occur in the legs, making the muscles atrophy because the muscle fibers shorten and causes fibrosis to occur in the connective tissue. Muscle weakness and skeletal deformities due to Duchenne Muscular Dystrophy contributes to breathing disorders as well as an enlarged heart occurring in most cases in early teenage years and all cases after the age of 18. Few people with Duchenne Muscular Dystrophy live past their 30s, common causes of death are due to the increasing complications of cardiomyopathy and breathing difficulties. Treatment Currently there is no known cure for the disorder but treatment to alleviate symptoms pertaining to Durchenne Muscular Dystrophy is targeted to help increase quality of life.
Steroid drugs can help in slowing down the wasting away of the muscles and maintaining muscle integrity. Even though possible side effects of taking steroids include weight gain, high blood pressure, changes in behavior and delayed growth, it helps to improve the function and strength of the person (http://mayoclinic.org/diseases-conditions/). Aggressive treatments for cardiomyopathy are managed with anti-congestive heart medications, but in some severe cases heart transplants are the much more needed
solutions. Aside from different medications that can be taken, many types of therapy as well as assisting devices can help improve activities of daily living for those who have muscular dystrophy. Since muscular dystrophy has a tendency to restrict the flexibility of one’s joints, range of motion exercises provide to keep flexibility in the joints as much as possible. Assistive devices such as wheelchairs, canes, walkers and braces provide support and independence individuals whose muscles are weakened by the disease. Another device that provides assistance is the breathing ventilator. As respiratory muscles begin to weaken, a sleep apnea device may help the individual to improve oxygen delivery during the night. Some people that suffer with severe muscular dystrophy may need to solely rely on a ventilator for breathing. Developments A technique called exon skipping shows a new potential development to increase muscle strength and prolong life in those who have a severe form of muscular dystrophy. According to a study by the Muscular Dystrophy Association (MDA) (http://mda.org) exon skipping improves production of a crucial muscle protein that’s missing in people with Duchenne Muscular Dystrophy. The genes that carry instructions for proteins are known as “exons” and during the processing of genetic information in cells, exons are pieced together while other information is removed. Exon skipping changes the way messenger RNA instructions are read so that only error-free exons go into the final protein sequence. The goal to this skipping is to produce a functional protein, despite the presence of flawed genetic instructions that are present with muscular dystrophy sufferers. Genetic testing today is used to provide important health information to detect altered or mutated genes that may cause illness or disease, but like with any testing, genetic testing has its limitations.
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
However, she began to develop balance difficulties. These difficulties began to escalate, Annie and her mother, Barbara, decided. to go to the Doctors. They find out that Annie has a severe condition. named Friedricks Attaxia in which your muscles waste away.
Duchenne muscular dystrophy (DMD) is a muscular dystrophy that only occurs in boys. It is caused by the mutation of the DMD gene which is inheritable between families in an X-linked recessive, but it rarely occurs in people from families without a known family history of the condition. Starting from the lower limbs, people with DMD have progressive loss of muscle function and weakness. The DMD gene, which encodes the muscle protein, dystrophin, is the second largest gene. Boy’s muscle with Duchenne muscular dystrophy does not create the dystrophin. 1 in 3500 of the male births are approximately affected by the Duchenne muscular dystrophy.
Steroids are used to bring the lean body mass of a patient up for multiple reasons. In most
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
One way steroids affect players is the effect on the mind and mental health of users. When baseball players take steroids, they put their bodies at risk. The risks include psychiatric symptoms such as bipolar disorder (Mitchell 55). Studies have shown that if baseball players get involved with steroids, there is strong chance they will experience symptoms like bipolar disorder or severe depression. Steroids also affect the cardiovascular system. They can cause heart attacks and increased or decreased cholesterol levels, and also cause the heart to become enlarged (Mitchell 55). The cardiovascular system faces tragic effects when people decide to use steroids. The liver is affected by steroids also, as the liver can become impaired, become cancerous, and thus cause skin to yellow (Mitchell 55). The f...
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
Spinal Muscular Atrophy affects about 8 out of every 100,000 live births and also causes death among more babies than any other genetic disease out there. About one in every forty people has this gene in them but may not have SMA so they are a genetic carrier. But in order for a child to have SMA, both parents have to carry the mutated gene and passed it to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women are carriers of the gene.
Do you know how many steroids are on earth today? Well there are numerous types of steroids. There are Anabolic steroids, Anadrol steroids, Halotestin steroids, but the two steroids present in your body are Corticosteroids and Anabolic steroids, which was said once before. There are many pros and cons that come upon when taking steroids such as high blood pressure, and different medical help as the cons. The pros are taking it for sports and weight training which gives you the advantage on other people. Basically steroids are good at enhancing you athletic capabilities but with every advantage there’s a disadvantage.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Besides the liver, using steroids can also affect one of the most important organs that keep us alive today, and that is the heart. What happens can be caused to the heart when using steroids is predispose people and increase the risk of a heart attack. Anabolic steroid increases the size of our heart and enlarges it. Increased enlargement of the heart can be extremely dangerous resulting in long term cardiac problems, or worse, chronic heart failure.
Steroids have been widely used and spread in the early 70‘s for many other reasons rather than medical purposes. Steroids can be classified to sex steroids, corticosteroids and anabolic steroids. They all three have been a used in the medical aid in different kind of dysfunction and illness. For example, I had a friend that had terrifying medical issues in the vertebral spinal lower back, she ended up having a disease because her spine was too weak and was not developing as it should have.
Steroids can have many health effects on your body. Many doctors say not to use steroids because of the possible long term effects. A source from a reputable website says, “It is speculated that possible long-term effects may include adverse cardiovascular ef...
Steroids can seem harmless to the uninformed user but they actually have harmful side effects. According to the article “News examines relationship between steroids and heart-related deaths,” published by New York Daily News, “The study (presented at the American Heart Association's Scientific Sessions in Chicago on Nov. 12, 2006) shows that deaths jumped from 476 from in 1980-1992 to 987 from in 1993-2005. Overall, 1,463 young athletes died between 1980 and 2005”(NY Daily News). This is a terrifying statistic and will only continue to rise.