Duchenne Muscular Dystrophy Research Paper

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.

According to the " Muscle Diseases" by Patrick F.Chinnery in the Goldman's Cecil Medicine, 24th Ed 2012, "Duchenne Muscular Dystrophy affects about 1 in 3500 males. About one third of the cases arises from a de novo mutation without a family history."

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.

Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.

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.

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

Duchenne muscular dystrophy, classified as a genetic disorder, is marked by progressive muscle degeneration and weakness. It is only one of the nine forms of muscular dystrophy; however, around half of the people diagnosed with muscular dystrophy have Duchenne muscular dystrophy.

Spinal muscular atrophy is a genetic disease that affects a part of the nervous system that controls voluntary muscle movement. Spinal muscular atrophy involves the loss of nerve cells called motor neurons in the spinal cord, which may also be known as motor neuron disease. The motor neurons receive “signals” from the brain to the spinal cord, and then they in turn send signals to our muscles. When these signals do not transmit properly, this is what causes spinal muscular atrophy. It is the number one genetic cause for newborn deaths. There are four types of spinal muscular atrophy, based on age the patient is, and the highest physical milestone achieved by the patient. Type 1 also known as Werdnig Hoffman disease, Type 2 also known

Muscular Dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass.

This letter is about muscular dystrophy which is a big and dangerous disease, and that you need to organize and make more research about it in order to find cure. It is making muscles weaker and could cause death of cells and tissues( Diseases and Conditions Muscular dystrophy). Muscular Dystrophy has symptoms like progressive muscular wasting, calf deformation, drooping eyelids, atrophy, respiratory difficulty, Inability to walk, poor balance, frequent falls, waddling gait, scoliosis, limited range of movement, joint contractures, cardiomyopathy, arrhythmias, muscle spasms, gowers' sign, all of it is what people become after sometime and it need to be stopped somehow( NINDS Muscular Dystrophy Information Page). In addition it also has many

Researchers identified that a gene in the X chromosome that when flawed it is the cause of MD. Dystrophin is the gene that is needed in the X chromosome to have fully functioning muscle development. MD is inherited in only the X chromosome so males have a 50% chance of inheriting the condition if the mother is a carrier, but females have a very low risk because they get an X chromosome from both mother and father. This condition is an X-linked recessive pattern. If a female inherits a mutated dystrophin gene from one of her parents, she will usually get a healthy dystrophin gene from her other parent because the father can pass the recessive gene in the X chromosomes. The female becomes a carrier just like her mother because the mutation is still in her genes . A male who mother who’s is a carrier has a 50% chance of inheriting the mutation and if they do inherit the gene they will develop the disease because they can not rely on

Duchenne Muscular Dystrophy commonly referred to as DMD affects 1 in 5000 males through there Dystrophin gene. DMD is currently 100% fatal, and 500 people die every year. This statistic is too high, as the average age of deaths for these people, was sixteen.