Abstract. . This Individual Study Was Written To Bring

For my paper I will be discussing in depth the responses to the questions posed at the end of the study as follows. What kinds of problems are inherent in Jolene’s research project? How would these problems affect the research results? How would you solve these problems? What should Stefanie do? What would the consequences of these actions be for Jolene? For Dr. Lee? For Stefanie

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

Attention Getter: Many young boys lives are slipping away from them, being claimed by one selfish disease called Duchenne Muscular Dystrophy, while FDA officials in the U.S. stand back and watch it happen.

Duchenne Muscular Dystrophy is the most common muscular dystrophy disorder. In the United States DMD affects 1 in 3,500 males. 2/3 of those cases are passed down for the mothers and 1/3 are random mutations. Internationally the statistics are similar. (Medscape, 2015)

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.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare form of muscular dystrophy. It is another one that only affects boys that appears from childhood to the early teen years and sometimes as late as the age of twenty five. It causes muscles weakness and wasting in the shoulders, upper arms, shins, and often causes problems with the joints becoming tighter. Life threatening heart problems are common and can also affect those who do not have this disease, but simply carry the genes for it. This is a slow progressing disease and often has slow progressing muscle weakness compared to other forms of muscular dystrophy.

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.

Science with all its marvels and wonders continues to press forward making extraordinary breakthroughs. Psychology plays a key role in many of sciences steps forward, each branch of psychology focusing on a specific techniques and theories. In the document the center of attention is surrounding the application of clinical psychology, this branch of psychology is unique as it all realms of an individual’s issue. Specifically speaking, anxiety is the psychological disorder that is under review through the processes of a clinical

Usually once atrophy of the hip musculature is noticed, shoulder weakness in noticed also. Those inflicted with DMD will also have trouble with overhead activates, and keeping the shoulders flexed for long periods of time. Scott M. Giles actually lists the following muscles affected by DMD: “Shoulder girdle musculature, pectorals, deltoids, rectus abdominals, gluteals, hamstrings, and calf muscles” 6. DMD patients continue to lose control and strength in their lower extremity musculature and eventually have so much trouble walking they are confined to a wheelchair. There is not a set age where this occurs, but the average is around twelve years old. The DMD muscles involved in eating, drinking, and of the eye are not touched by the disease. They usually do not have any hearing deficits or stroke disorders 1.

The National Organization for Rare Disorders (NORD) says that MSUD happens to males and females at the same rate. The risk of having any form of MSUD depends if your parents have this disorder or not. If both of the parents have the disorder, each child has a 25 percent chance of getting two mutated genes and getting MSUD, the child would have a 50 percent chance from getting one normal gene from each parent. The parent or parents are not able to pass on the gene to their children if they have two normal genes for MSUD. (Healthline,

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.

Duchenne muscular dystrophy (DMD) is a genetic disease that weakens one’s muscles. DMD is inherited through an X linked pattern due to the gene carrying the DMD mutation is on the X chromosome. The male population are affected by DMD almost exclusive. There is a one in two chance that a male offspring will have DMD if their mother is a carrier of the mutated gene. Every boy inherits an X chromosome from their mother and a Y from their father. If a boy inherits the mutated gene, then they will definitely have the disease because they don’t have a second gene to make up for the faulty one. Female with DMD are very rare in comparison to their counterpart. Girls inherits two X chromosomes, one from each parent. When a girl inherits

As shown in Figure 1, this presents the most common scenario that is passed down to children since most people with the disease do not have a long enough life expectancy, and most females who get both affected X chromosomes by a carrier mother and affected father is very unlikely. The chart explains how the males who receive the disease get it from a carrier mother who is unaffected by the disease as the one affected X chromosome is masked by unaffected X chromosome; a task that the Y chromosome cannot achieve, thus making the male population inclined to receive it more likely than females. Figure 1 illustrates a more detailed Punnett Square depicts the common scenario. Duchenne Muscular Dystrophy is caused by a mutation of the dystrophin gene at locus Xp21, located on the short arm of the X chromosome. The DMD disease occurs primarily from frameshift mutations in the dystrophin gene. Just short of 70% of cases of DMD occur from deletion of the dystrophin gene, 10% of cases occur from the harmful addition of the gene. The remaining cases (that have medically been recorded), have occurred because of disastrous point mutations that change in the DNA sequence.

In most cases it is an X-linked genetic disorder that is carried by the mother but only manifesting in sons. It is caused by a mutated gene and results in low levels of dystrophin. Whereas normal muscles have dystrophin to help keep their shape and strength, those who suffer from MD tend to lack proper levels of this protein or will not be able to produce it at all. According to the Muscular Dystrophy Association, there are nine types of DM, with the two most common types being Duchenne and Becker. The symptoms of each type tend to differ, but Duchenne and Becker have similar signs: muscle weakness in the extremities, difficulty walking, lordotic posture, and enlarged calf muscles. The most easily recognizable sign of MD is a “toe gait,” which is characterized by the patient walking on his/her toes and walking with an abnormal forward curvature of the spine in the lumbar region. This gait is the result of the lower leg muscles compensating for upper leg muscles that no longer function, and the lordotic posture is due to a tilted pelvis caused by weakened muscles around the

Muscular dystrophy is a group of diseases that cause an abnormal progressive deteriorating of the muscles, leading to muscle weakness. Many different types of dystrophy are known, characterized by the muscle groups affected. The disease is caused from a genetic mutation that prevents a protein essential for normal muscle activity from being made, or being produced correctly. In each type of muscular dystrophy, a different protein is irregular (Emery, 2008). Furthermore, because this disease is due to a genetic mutation, there is no cure to fix the mutation. Therefore treatment is used to attend to the problems caused by the dystrophy and treatment strives to create a pleasant life for the patient. According to the National Institute of Neurological Disorders and Stroke, treatment methods include multiple types of therapy, including respiratory, physical, speech, drug, and occupational, as well as surgery (NINDS, 2011). Hydrotherapy, a type of physical therapy in water and its effects on muscular dystrophy patients will be focused on in the succeeding study.