Duchenne Muscular Dystrophy: A Case Study

Prior to the 1980s, there was minimum knowledge relating to the causes of muscular dystrophy. However, in 1986, researchers discovered a gene, soon to be named dystrophin, on the X chromosome. The gene, when mutated, reacted by causing Duchenne muscular dystrophies. During 1987, the protein in relation to the gene discovered a year early was officially classified and named dystrophin. Duchenne Muscular Dystrophy (DMD) develops due to the mutated gene failure to supply active dystrophin. This minimum amount of dystrophin affects the body by developing muscle damage and continued weakness from early life.

Duchenne Muscular Dystrophy is the most common form of MD that usually affects children. It has accounted for over 50% of all muscular dystrophy cases, occurring at a frequency of 1 in 3,500 new born males (NCBI 2016). Boys are the main victim of this disease, however symptoms can be shown and experienced by girls and women who carry the defective DMD gene (NIH 2016). It is a terrible disease that is progressive and has a rapid onset. The DMD gene is big in size which makes it an easy

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.

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).

Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past their teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.D., is looking fairly successful. Scientists are isolating special

Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

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.

Limb-girdle muscular dystrophy is a type of muscular dystrophy where the muscles affected are the hips and shoulders, which are also known as the limb girdle muscles. Some symptoms of Limb-girdle are muscle weakness/atrophy, myoglobinuria, myotonia, elevated serum CK, and in a fifth of the cases, cardiomyopathy. The symptoms continue to get worse over time and sometimes they can get worse very quickly. The symptoms tend to appear around the age of 10 or 12, and the person may lose mobility within 20-30 years. Limb-girdle is not a fatal disease, and death usually is caused by a secondary disease. But in the most severe cases the lifespan is shortened to about 20-30 years.

The use of creditable and appropriate resources is important for educators because all internet should be adept at critically evaluating information (Rankin, Stallings & London, 2005, p.380). To ensure that information is unbiased, accurate, and up to date and clear to the reader the educator should evaluate each resource that is going to be used (Rankin, et al., 2005, p. 280). Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass (Muscular Dystrophy Canada, 2015). The Muscular Dystrophy Canada has developed a web page available for those effected by muscular dystrophy and their caregivers. It is located at the web address www.muscle.ca. Information on this site

Duchenne Muscular Dystrophy (DMD) refers to the muscle appearing poorly nourished because of degeneration, which leads to muscle weakness and lost of muscle mass. DMD is a disorder that is caused by genetic mutations in the dystrophin gene. Dystrophin is a muscle that connects the cytoskeleton to the extracellular matrix (ECM). Tidy, D. C. (2016, April 15). When nonsense mutation or frameshift mutation occurs in dystrophin, it results in no protein at all, which causes a severe form of DMD. A dystrophin gene has more base pairs and more exons in comparison to most genes, which means the dysophin gene has a higher chance for mistakes during meiosis. The disorder affects one in 5000 newborn males. Tidy, D. C. (2016, April 15). Males have one

Even though the annual telethon is over, muscular dystrophy—all nine forms—still exists. MD presents with a combination of muscle weakness and muscle wasting.

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.

Duchenne muscular dystrophy (DMD) is caused by a mutated gene in the X chromosome. This flawed genes is passed on by the mother. However, most carrier of the gene do not show signs or symptoms of the disease. The The flawed gene causes the improper production of the protein dystrophin which is accompanied by “defective dystrophin-glycoprotein complex (DGC) in the sarcolemma and leads to progressive muscle degeneration” (Nakamura & Takeda, 2011). The Dystrophin protein is vital in providing a muscle integrity. Therefore, the absence of dystrophin production can lead to muscled atrophy.

Therefore, I'm gonna talk about the causes, the common types and the treatments for the Muscular Dystrophy.

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.