Duchenne Muscular Dystrophy Research Paper

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Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

Duchenne Muscular Dystrophy is also the most common type of muscular dystrophy in kids, children who are affected by the disease will most likely be in a wheelchair by the time they are 12, and are likely to die anywhere from their late teens to early twenties ( Yiu and Kornberg, 2008, p. 236).

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)

Signs of the disease generally take longer to show up, happening from the teen years to mid- late twenties, and possibly even later than that.

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.

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.

Duchenne’s muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions.

Myotonic Dystrophy is the most common form of muscular dystrophy. It is a chronic, multi-system disorder that is characterized by progressive muscle wasting and weakness. Symptoms include; myotonia (prolonged muscle contractions), the inability to relax certain muscles after use, slurred speech, temporary locking of jaw, cataracts, abnormalities of the electrical signals that control the heartbeat, and early balding and infertility in men. There are two major types of myotonic dystrophy, type 1 and type 2. Many of the symptoms are overlapping, the only differences are type 1 is generally more severe than type 2 and type 1 affects the lower legs, hands, neck and face. Whereas, type 2 affects the neck, shoulders, elbows, and hips. Myotonic dystrophy

The only thing available to patients are treatments to try and slow down the process of muscle degradation. There are only two current types of treatments available for patients, drugs and physical therapy. The two most common types of drugs given are corticosteroids and heart medications. Corticosteroids can help increase muscle strength and slow progression, although their long-term use can weaken bones and increase weight gain. Now if the muscular dystrophy impacts the heart, beta blockers and angiotensin-converting enzyme (ACE) inhibitors may be useful. Now there are four different types of physical therapy that may help out, the first one is just general exercise because it helps keep the limbs limber and in motion for longer than if you weren’t to exercise. Now if your muscles weaken to the point where it becomes hard to breath, then a breathing assistant will be given to help ease the flow of air that you produce. When MD has reached its advanced stages, then braces and mobility aids are given to keep you moving and to stretch your muscles and tendons as to slow down the process of weakening muscles. (MNT) The two most effective ways of treating MD were the corticosteroids and also general exercise. Since the corticosteroids in the long run cause you to gain weight, the general exercise helps keep that in check along with keeping you active. Unfortunately with these treatments it does not stop MD from

Duchenne Muscular Dystrophy or DMD for short is a genetic disease that affects the skeletal muscles causing muscle degeneration and muscle wasting. Duchenne Muscular Dystrophy is an X-linked recessive chromosomal disease, which is caused by mutations in the DMD Gene (Regenerative Medicine). This Disease affects 1 in 3600 boys (Regenerative Medicine). A male born with this disease experiences respiratory dysfunction, trouble ambulation, cognitive impairment, some even experience premature death. Unfortunately, there is no cure for DMD, but there are research studies in the works for different therapies to help reverse this gene mutation and to elevate symptoms associate with this disease.

When looking at a potential therapy or cure, it is important to recognize exactly how the disease affects the body. Duchenne Muscular Dystrophy (DMD) is one of the most severe myopathies, or muscle diseases (Cacchiarelli et al). To be diagnosed with DMD, a patient must have a mutation in the dystrophin gene present (Muscular Dystrophy Association). Moreover, that mutation in the gene is what causes the lack of dystrophin synthesis. Dystrophin is protein in the body that keeps the muscles intact (Muscular Dystrophy Association). Therefore, a lack of dystrophin causes the muscles to deteriorate; which is identified as dystrophy. When the body lacks strong healthy muscle, it does not only become weak; the body itself begins to shut down. Our organs depend on the muscles that allow us to walk, eat, and breathe to provide energy, nutrients, and oxygen. For this reason, DMD eventually leads to a short life.

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.

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.