Essay On Duchenne's Muscular Dystrophy

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

Listener Relevance: Duchenne Muscular Dystrophy (DMD), is more common than people think and chances are sooner or later you will know of or see somebody affected by this disease.

This rare disease affects 1 in 3,500- 6,000 males. A key indicator a child has Duchenne is muscle weakness. This means a child may have difficulty getting up after sitting down and difficulty walking. Often times kids with Duchenne are walk on there toes and can

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that weakens the muscles that we need to support our body, body weight, to stand, and to move around. It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders, mutations, and DMD has to be passed down throughout everyone in that family for generations. The symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a disability of walking and even moving. You need to tell your doctor immediately if you experience any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where you can't get up or can't get something you need. When you do talk to your doctor, you will have an advantage of getting the help you need.

(Chad Haldeman-Englert, 2014) The symptoms usually appear before age 6 and may appear as early as infancy. One of the first noticeable symptom of this disease is the delay in motor milestones; many with Duchenne will take longer to independently stand, sit or walk than average child. (National Human Genome Research Institute, 2013) In toddlers, their enlarged calf muscles causing them to frequently fall over whilst moving. The child may experience occasional pain in the calves and may have some difficulty raising their arms. There is a steady decline in muscle strength between the ages of 6 and 11 years. Most boys are confined to a wheelchair by the age of 12. Muscular weakness and skeletal deformities often leads to respiratory issue. The diaphragm and other muscles that operates the lungs may start to weaken, making it hard to circulate fresh air into the body. The risk of serious respiratory infection is very high. Cardiomyopathy, a chronic disease of the heart muscle that is often a result of the DMD. Most boys will develop this heart disease in their early teens. One third of boys with DMD have some degree of learning disability. Majority of their learning problems occurs in focusing, verbal learning and memorising, and personal interaction. (The Muscular Dystrophy Association (MDA), 2016) Some of the symptoms, such as respiratory infection and cardiomyopathy are common causes of death in DMD

I remember replying to a few of your posts last semester. Did you know Duchenne Muscular Dystrophy affects more boys than girls? Expect them to be in a wheel-chair at around during their early teens. It is also know that it takes longer for them to start walking, which means they barely walk during their lives. They even have a hard time raising their arms and fall often if they were walking. They might struggle to climb up the stairs or it may not even be worth the trouble. The worst case scenario is Cardiopathy because DMD causes damage to the heart. To further elaborate, the lacking of dystrophin results to weakening of the muscle layer in the heart which is called myocardium. This situation could indeed threaten their life. DMD has also affected the way they learn verbally and they even have a hard time focusing. In addition, they will struggle to recall memories and could interact emotionally different than most people (MDA For Strength, Independence & Life, 2016). I’d choose adoption if I could have avoided this devastating syndrome. I would also suggest prenatal diagnosis.

New parents often bask in the enjoyment of their young children as they lovingly watch the days pass as their life story is written. Though a great amount of parents are lucky enough to avoid an encounter with illness threatening to steal their child’s life, many can only hope that their child will not be the single male child of every 3,500 to be afflicted by DMD (Peterlin , 2014). Too many boys—somewhere between 400 and 600 annually—will be born with DMD and its sister illness Becker Muscular Dystrophy in the United States alone (Duchenne and Becker muscular dystrophy, 2015). The symptoms associated with this devastating disease generally render the child wheelchair bound by adolescence and fighting a life expectancy of only 18

The most common muscular dystrophy is Duchenne dystrophy (Emery 2008). Due to a genetic defect only on the X chromosome, this disease is present primarily in males. The University of California Los Angeles found the occurrence at 1 out of every 5000 males in countries that provide genetic counseling (UCLA). The protein discovered that is absent is dystrophin, a protein essential in the membrane of muscle

Muscle weakness is commonly associated with my genetic disease, but it’s more than that. Myotonic Muscular Dystrophy, or MMD for short, is a whirl of dizziness, fatigue, and frustration. The list can go on and on, but you’re not here to listen about that. I’ll start with where it all began. Just about three years ago I decided to get back into running track because I suddenly had more free time on my hands. I ran about four laps around my neighborhood track field, when I noticed that breathing began to feel heavy, so I decided to call it quits. I went back home and laid down, my breathing became slower and it seemed that it took more energy to inhale and exhale. I didn’t think too much of it, I blamed it on me being out of shape. Two days after my breathing had remained the same, heavy

Along with progressive muscles weakness and muscles destruction possible secondary conditions and complications can occurs. Due to muscular dystrophy and shortening of muscles structures, patient’s mobility can be impaired. Some people will eventually need to use a wheelchair. Additionally, weakened muscles lead to the postural instability resulting in spine curvature disorders. One of the further complications are breathing problems caused by progressive weakness of diaphragm, intercostal and abdominal muscles which are required for proper breathing mechanism. In consequences of those changes patients with muscular dystrophy may eventually need to use a breathing assistance device such as ventilators. In some cases, muscular dystrophy can

Muscular dystrophies are caused by genetic mutations, and as of today there is no cure. Knowledge about this degenerative disease is crucial to awareness and eventually a cure. There are a handful of variations of this disease, the most common being Duchenne’s. Their common factor is the defect in their genetic code for dystrophin. Dystrophin being a vital protein that is necessary for muscle growth and function. (Hoffman 1987)

Muscle tissues will weaken progressively and can eventually this disease usually leaves victims wheelchair bound at around 16 years old. It affects the lower limbs of the body first. Then it will begin to affect more important muscles such as the heart. (1) It deteriorates muscles at a much quicker rate than other muscular dystrophies like Becker’s, which are also caused by the DMD gene. (3). Having Duchenne Muscular Dystrophy will result in death. Symptoms will usually appear before the age of 6, and people who develop it will usually die around the age of 20. (1)