Duchenne Muscular Dystrophy Essay

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.

According to Green (2014) the (DMD) gene for dystrophin, which is a protein that is present in muscles, is the second largest gene. A deficiency of dystrophin results in the damage of muscle fibres, resulting in a loss of muscle functioning. This disorder affects mainly the legs and pelvic region of the body. However it could also affect the heart, the respiratory system, as well as rarely the brain. Duchenne

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).

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.

This rare disease affects 1 in 3,500- 6,000 males. A key indicator a child has Duchenne is muscle weakness. This means a child may have difficulty getting up after sitting down and difficulty walking. Often times kids with Duchenne are walk on there toes and can

Even though there are no cures, there are some treatments to slow down the progression of Ben’s DMD. Ben can take certain supplements that will help him function better. One of them is beta-Hydroxy beta methylbutyric acid (HMB). This is an amino acid that helps slow down the degradation of a person’s muscles. However, this has not been studied on DMD. Haelan is another supplement that Ben can take. It will boost Ben’s immune system and give him more energy overall, which will help him live with his condition. Again, this has not been directly tested on DMD. Deflazacort is an over-the counter drug that has anti-inflammatory properties that will preserve Ben’s muscles. This has been proven to prevent/ delay scoliosis as well. Ben could also take Q-10. This is a coenzyme that many people with DMD lack. It will help his cells function

The most common and well known variation of MD is Duchenne MD (DMD). The person in history who gets the credit for first studying and publishing details on this type of MD is rather complicated. The disease is actually named after Gulliaume Benjamin Amand Duchenne. Duchenne first described his details of the disease in the late 1800s. Since the disease is named after him, it is highly accepted that he was the first; however, there are many that simply do not agree on the matter. It has now come to light that a doctor from the United Kingdom named Edward Meryon actually wrote his own account on the disease a decade before Duchenne. This type accounts for about half of all MD cases 2. Scott Giles stated that “the incidence of DMD is

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome

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 (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.

Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.

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.

Becker muscular dystrophy (BMD) is very similar to DMB in that it also just affects boys and shares some of the same symptoms like weakness and muscle breakdown but the symptoms are less intense and may start later in life. Sometimes the symptoms are not present until the age of ten or into adulthood. Those diagnosed with BMD can have all of the same symptoms as DMB but many people with this disease live long and active lives without the use of a wheelchair.

Credibility Statement: According to the "Muscular Dystrophies" by Harvey B.Sarnat in Nelson Textbook of Pediatrics, 20th Ed 2016, "A muscular dystrophy is distinguished from all other neuromuscular diseases by 4 obligatory criteria: It is a primary myopathy, it has a genetic basis,