Kaylie L.

asked • 03/11/16

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Many people may know about common genetic disorders such as cystic fibrosis, sickle-cell disease, down syndrome and more. Even though those are important genetic disorders, some of the rarer diseases often go overlooked. One such example is Myotonic Dystrophy. Though the disorder is rare, it is still important to learn facts and information about the topic as it will benefit people with the disorder. Through much research, doctors have discovered many symptoms, what genes affect the disorder, accurate diagnostic techniques, and effective treatments. Though much has been unearthed about this disorder, scientists are still uncovering the mysteries of Myotonic Dystrophy (MD).

For starters, there are many different signs that a person has MD. To explain, patients with MD have a variety of symptoms that have been identified by doctors. One such symptom of MD is continual deterioration (decline) and frailness of the muscles (NORD, 2007). “People who have myotonic dystrophy have progressive muscle wasting and weakness beginning in their 20’s or 30’s” (NIH, June 4 2012). Because of this weakness, many individuals with the condition eventually will have trouble performing tasks such as walking and shaking hands. Furthermore, unlike women, men have certain symptoms that are gender specific. Men who have the disease at most times have different hormones that can cause balding (NIH, June 4 2012). In addition to balding, the hormones can also cause a man to become infertile (NIH, June 4 2012). This would mean that the man would lose the ability to father a child. These are just one of the many symptoms that people with myotonic dystrophy often possess.

Furthermore, MD is caused by mutations on different genes in a person’s body. To clarify, the two types of myotonic dystrophy (1 & 2) come to be because of either a mutation on the DMPK or CNBP gene. First of all, Type 1 MD is the result of a mutation on the DMPK gene (GHR, November 2010). In this mutation, the segment of DNA is repeated multiple times in an abnormal fashion (GHR, November 2010). Because of this segment repeating so many times, an unstable area is formed in the gene (GHR, November 2010). Because of this mutation in the DMPK gene, people will develop type 1 MD. Secondly “... Type 2 results from mutations in the CNBP gene” (GHR, November 2010). As in type 1, a segment of DNA is again repeated several times to form an unstable region in the gene (GHR, November 2010). Even though the mutation in the gene is the same, it is on a different gene, so it will still result in a different version of the disorder. To show how gene mutations cause the disorder, it is also important to mention that the mutation causes clumps that interfere with protein production (GHR, November 2010). The change in protein prevents muscle cells from operating normally (GHR, November 2010). Since many muscles are not functioning properly, those affected by the disorder will have signs of progressive muscle weakness. Because of the 2 types of gene mutations, different types of MD will develop in humans causing people around the world to suffer from the disorder.

Additionally, to diagnose MD, doctors can use many different techniques. To put this in another way, geneticists use a variety of diagnostic techniques to determine whether or not a person does indeed have the disorder. To begin with, MD is mainly diagnosed through a physical exam (NIH, June 4 2012). Physical exams help doctors look for patterns of muscle wasting and weakness (NIH, June 4 2012). Through physical exams, doctors can usually locate signs of MD such as muscle weakness in order to determine if the person has the disease. Doctors can also carry out a genetic test to ensure that their diagnosis was correct and the patient actually has MD (NIH, June 4 2012). In this test “ a blood sample is taken to identify the altered gene (mutation) within the chromosomes which are contained within the white blood cells” (NIH, June 4, 2012). In using this method, a doctor can see if a person has the gene mutation to know for certain if a person has MD or not. Even though genetic tests are the most reliable, it may not always be the most cost effective. These tests can be expensive and many people may not be able to pay for them which is why physical exams are more commonly used. Through these techniques as well as many others, doctors can more easily identify and treat people who have MD.

As a final point, patients with MD can have access to a variety of treatments to help cope with the disorder. To explain, Even though there is no cure, MD patients can still look for different treatments to suit their needs and to make living with the disorder easier. For example, when a patient’s muscle strength begins to diminish, a doctor may prescribe ankle supports and leg braces (NIH, June 4 2012). These devices give support to the muscles making it easier to move around. These two tools can help someone with MD walk and continue with daily life. breathing weakness is also an important factor in MD that can be treated (MDA, N.D). Devices like breathing boosters can help pump air into the lungs (MDA, N.D). People can also use cough assist machines to help with clearing out secretions as well (MDA, N.D). Using these treatments, a person with MD would have less trouble breathing due to muscle weakness in the lungs. Because of different treatments such as these, people with MD can still lead active lives.

Because of medicinal advances, people affected by MD can live healthy lives. Doctors have worked much and still have much to learn about MD. With the many advances occurring in the scientific community, there soon may be a cure for the disorder.

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Naina B. answered • 03/11/16

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