Duchenne Muscular Dystrophy

In most cases, the creation of a human being is flawless and results in a fully functioning healthy organism. Unfortunately there are numerous altercations that can potentially occur during the reproduction process. Many of these altercations are known as genetic disorders. Of these disorders, muscular dystrophy is one of the more serious and most deadly. The most common type of this deadly genetic disorder is referred to as Duchenne muscular dystrophy, also known as DMD.

Like any other genetic disorder, DMD is inherited from the parents to the child by means of incorrect genetic material. What makes this disorder unique is that it only affects boys. A boy obtains Duchenne muscular dystrophy when there is a mutation on the X chromosomes, one of the two sex chromosomes. This chromosome contains a gene that codes for the protein dystrophin, which is a major muscle maintaining protein that is composed of approximately four thousand amino acids. Dystrophin is very important because without it the body will lose its ability to maintain the structure of its muscles. This will cause the muscles to slowly deteriorate, which will eventually kill the person. Duchene muscular dystrophy is a sex-linked recessive disorder. For this reason females can carry and transmit the disorder without being affected by it. Unlike males, who have one X and one Y sex chromosome, Females have two X chromosomes. When a female obtains Duchennes muscular dystrophy only one of the two X chromosomes is affected. This leaves the dystrophin gene on the female's other identical X chromosome to code for the muscle maintaining protein and therefore results in no affect. For this reason females can carry and transmit the disorder without being affected by it. It is also very uncommon to see any affects of the disorder in new born babies. In most cases a child will not experience any of the symptoms until they are between three and four years old. Once the symptoms begin they only get progressively worse (Pray, 2008).

Because Duchenne muscular dystrophy is a muscular disorder, it does damage throughout the whole body. It affects involuntary muscles such as the heart and respiratory muscles as well as voluntary muscles that enable movement. Throughout their short life a person suffering from this disorder will experience a number of symptoms that will worsen over the years. As the patient gets older they gradually become weaker due to the fact that the muscles throughout their body are slowly breaking down. Some of the first body parts affected include upper arms, upper legs, hips, and occasionally calf muscles. One of the most obvious symptoms in enlargement of the calf muscles (Corrick, 1992). As a result of the body's weakening it is very common for a patient to develop curvature of their spine. This spinal curvature is better known as scoliosis. They also experience tightening of the joints which, along with scoliosis and muscle deterioration, can put the patient in a wheelchair at about age ten. The heart and lungs eventually are affected and requires close monitoring by a specialist. Due to the lung problems it is also common for a patient to require a ventilator in order to breathe correctly. By their late teens/early twenties a person suffering from this disorder will end up dying because of the problems they have with their heart and lungs (Muscular Dystrophy, 2007). It is very obvious that someone suffering from Duchenne muscular dystrophy goes through a great deal of pain and suffering before his early death.

The only prevention for this disorder is to avoid having children if the female is a carrier of the genetic mutation. Fortunately, doctors have the ability to do genetic tests which will inform the female if she is a carrier. If a woman does carry the genetic mutation, she should avoid reproducing to avoid having a boy with Duchene muscular dystrophy (Duchene Muscular Dystrophy, 2006). Once a child is suspected to have DMD, it can be officially diagnosed by a doctor. During the pregnancy tests can be done to determine if the gene mutation of dystrophin is present in the unborn fetus. If the mutation is present and the unborn baby is male the parents must decided if they would like to terminate the pregnancy. A child that has already been born will display some key symptoms if they are suffering from DMD. These symptoms include the inability to stand/sit or walk up and down stairs at a normal speed. The child will also waddle a bit from side to side as he walks. This is because the muscles in their lower body are gradually getting weaker and are not capable of working efficiently. If a child is experiencing these symptoms there are several tests that need to be done in order to properly diagnose (Learning about Duchene muscular dystrophy, 2009). A blood biopsy will be performed in order to determine if there is an abnormal level of dystrophin in the muscles. If a boy has DMD he will have very low levels of dystrophin. The patient will also have high levels of creatine kinase, a substance found within the body's muscles. As the muscles break down, they release this substance which eventually reaches the blood stream and will show up when the blood is tested. With abnormal dystrophin and high levels of creatine kinase in the blood, it is more than likely that the child is suffering from Duchene muscular dystrophy. After these two major tests family history is reviewed to determine if the disorder is common in the patient's family. The problem with reviewing a patient's family is that about one in three cases of DMD is spontaneous and will not show up in the mother's family history. For this reason, doctors do not rely on a patient's family history to diagnose, but instead use it to reinforce the other test results (Nesmith, 2009). These various methods will effectively aid doctors in diagnosing about ninety-five percent of patients that are being tested (Learning about Duchene muscular dystrophy, 2009).

According to Doctor Leslie Pray, "Duchene muscular dystrophy remains a devastating disease for which there is no cure" (Pray, 2008). Since the disease was discovered, scientists have been trying to find a cure but have not yet been successful. Luckily, as medical knowledge becomes more advanced, doctors and scientists get closer to finding a treatment that will successfully cure Duchene muscular dystrophy. Some of these treatments include, gene and drug based therapies. Gene based therapy involves the replacement of the faulty dystrophin gene with one that is fully functioning. Drug based therapy is the attempt of using drugs to replace the dystrophin protein that is not working correctly. Despite the failure of these treatments thus far, it is believed that with some work they will effectively cure DMD (Pray, 2008).

Like most diseases, DMD affects people throughout the whole world. What sets this disorder aside from most of the other diseases and disorders in existence is that it has a one hundred percent mortality rate. Approximately one in three thousand males are infected with Duchene muscular dystrophy (Duchene Muscular Dystrophy, 2006). Every year about forty-five thousand people are born with this disorder. Since Duchene muscular dystrophy is not yet curable all forty-five thousand people that obtain the disease each year end up dying from it. What is unexpected is that it still fits the criteria of a rare disease because it affects less than two-hundred thousand people per year (Prevalence and incident statistics about Duchene muscular dystrophy, 2009). There are also many fundraisers set up to raise many and awareness for the various types of muscular dystrophy, including Duchene's. The biggest fundraising event is "Jerry's Kids", an annual telethon that raises money for children suffering from muscular dystrophy. The telethon is hosted by comedian Jerry Lewis, and is aired every labor day for twenty-one and a half hours. During the fundraiser Lewis is accompanied by various music and movie stars. Last year the telethon raised over sixty-five million dollars (MDA Telethon). It is events like this that are Crucial in finding a cure for DMD.

It is evident that Duchene muscular dystrophy is one of the most fatal genetic disorders that a child can obtain. It is one of the many diseases and disorders that remain without any type of cure. It is important that scientist continue to utilize today's medical advancements to research it so that eventually a cure will be discovered. Without the abolishment of DMD, roughly forty-five thousand young children will continue to be lost each year because of this deadly disorder.

References

Corrick, A. (1992). Muscular Dystrophy. Venture Books. 42-44.

Duchene Muscular Dystrophy, A male inherited disease. (2006). Men's Health. Retrieved from the world wide web on April 6, 2009. http://menshealth.about.com/cs/genetics/a/duchenne.htm

Learning about duchene muscular dystrophy. (2009). National Human Genome Institute. Retrived from the world wide web on April 6, 2009. http://www.genome.gov/19518854#3

MDA Telethon. (2009). MDA. Retrieved from the world wide web on April 7, 2009.

< http://www.mda.org/telethon/history.html >Nesmith, J. (2009). Muscular dystrophy gene find raises hope; [main edition]. The Atlanta Journal. Retrieved from the world wide web on April 2, 2009. http://proquest.umi.com/pqweb?index=6&sid=9&srchmode=1&vinst=PROD&fmt=3&

Pray, L. (2008). Sex-Linked Diseases: The Case of Duchenne Muscular Dystrophy. Retrieved from the world wide web on April 4, 2009. http://www.nature.com/scitable/topicpage/Sex-linked-Diseases-the-Case-of-Duchene-800

Prevalence and incident statistics about duchene muscular dystrophy. (2009). Wrong Diagnosis. Retrieved from the world wide web on April 6, 2009. Muscular Dystrophy. (2007). TeensHealth. Retrieved from the world wide web on April 2, 2009. http://.org/PageManager.jsp?dn=KidsHealth&lic=l&ps=207&cat_id=0158&arti