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.

While there is no known cure, scientists are certain of the genetic make-up that causes muscular dystrophy, an inherited faulty gene. This gene can be inherited in one of four ways: X-linked or sex-linked recessive, when a man with X-Linked muscular dystrophy has children, Autosomal Recessive Inheritance, and Autosomal Dominant Inheritance.

Duchenne Muscular Dystrophy is a disease which causes skeletal muscle to waste away, this wasting of muscle is caused by a mutation of the dystrophin gene (Meregalli et al., 2013, p. 4251).

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

Duchenne muscular dystrophy (DMD) is defined as a chronic form of dystrophy that is caused by a mutated gene. This essay critically discusses Duchenne muscular dystrophy as a whole, including all the symptoms, causes as well as treatment.

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.

The most common and well known variation of MD is Duchenne MD (DMD). The person in history who gets the credit for first studying and publishing details on this type of MD is rather complicated. The disease is actually named after Gulliaume Benjamin Amand Duchenne. Duchenne first described his details of the disease in the late 1800s. Since the disease is named after him, it is highly accepted that he was the first; however, there are many that simply do not agree on the matter. It has now come to light that a doctor from the United Kingdom named Edward Meryon actually wrote his own account on the disease a decade before Duchenne. This type accounts for about half of all MD cases 2. Scott Giles stated that “the incidence of DMD is

muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

On very rare occasions when DNA studies do not present a clear picture a muscle biopsy may be required. A small piece of muscle tissue is taken with a needle, usually from the thigh. Using special staining techniques in the laboratory the muscle tissue is examined microscopically for dystrophin protein. In DMD, dystrophin is completely absent while in the related disorder Becker muscular dystrophy some dystrophin is present. Therefore, the muscle biopsy test is important in providing a definite diagnosis when DNA tests are inconclusive.

Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Spinal muscular atrophy (SMA) is a genetic disorder that affects the part of the nervous system that controls voluntary muscle movement. SMA is an autosomal recessive disease where each parent usually carries the mutated gene and both mutated genes are inherited to acquire the disease. “Two carriers have a twenty-five percent chance of having an unaffected child with two normal genes, a fifty percent chance of having an unaffected child who also is a carrier, and a twenty-five percent chance of having an affected child with two recessive genes (“Autosomal Recessive”).” Not many people are aware of SMA but,1 in 50 people are carriers of SMA and about 1 in 10,000 babies are affected (“Cure SMA”). People can get DNA testing done to see if they

The above article illustrates the damage due to skeletal muscle tissue with muscular dystrophy. Muscular dystrophy causes the degenerative break down of muscles which may cause acute and or chronic damage to tissue. Such as the inability to walk, the inability to perform basic motor functioning, and the inability to do everyday tasks. The main component that muscular dystrophy effects is the dystrophin that lays on the muscle tissue which receives its stimulation from the central nervous system.

1. In terms of progressive weakness and degeneration of muscles one group of disorders is being connected from it and that disorder is called Muscular Dystrophy. It is said to be caused by mutations on the X chromosome and due to not being able to produce a protein called Dystrophin that plays a vital role in building and repairing muscles that cannot function properly. The said protein aids various elements within muscle cells together and bonds them all to the outer membrane or the sarcolemma. Without the presence of dystrophin, disruptions transpire in the sarcolemma results to weakening of muscles and may cause damage to the muscle cells.