The affects of Duchenne muscular dystrophy as well as various solutions performed to provide accurate diagnoses and treatment of Duchenne muscular dystrophy.
1. Introduction
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.
2. Overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy was discovered by a French neurologist, Guillaume Duchenne. According to Emery (1994 : 23) Guillaume Duchenne invented an instrument, Duchenne’s trocar, to remove small portions of tissue in the body (biopsy).
Duchenne muscular dystrophy is a gender-linked inherited disorder. To illustrate, males only have one X chromosome, therefore they do not have a second X chromosome to make up for the damaged gene. Females can only become carriers of the disease, as females have a second X chromosomes to make up for the damaged gene.
http://www.nlm.nih.gov/medlineplus/ency/imagepages/19097.htm
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
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.
DMD also only affects males, but women can unknowingly be carriers of the disease. They may not know they carry it if they have no brothers or were adopted.
Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.
Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are
Duchenne Muscular Dystrophy is caused by a defect or a mutation in the DMD gene located in the X chromosome. This gene provides instruction for a protein that helps muscle tissue repair itself known as dystrophin. The absence of this protein is thought to be the cause of all types of muscular dystrophy. The genetic explanation of the defective gene is simple: males have one X and one Y chromosome and females have two X chromosomes, so when a female inherits the mutated gene she has another unchanged X chromosome make her asymptomatic or showing no symptoms or evidence of a disease or disorder. A female with one mutated and one normal gene is labeled a carrier and each child of hers born has a one in two chance of inheriting the gene. On the other hand, males have no extra X chromosome, so they have no protection against the symptoms. Because of these conditions, DMD is classified as an X-linked disorder and this is why DMD only affects boys.
Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of
On very rare occasions when DNA studies do not present a clear picture a muscle biopsy may be required. A small piece of muscle tissue is taken with a needle, usually from the thigh. Using special staining techniques in the laboratory the muscle tissue is examined microscopically for dystrophin protein. In DMD, dystrophin is completely absent while in the related disorder Becker muscular dystrophy some dystrophin is present. Therefore, the muscle biopsy test is important in providing a definite diagnosis when DNA tests are inconclusive.
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 are most commonly affected
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.
The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.
Becker muscular dystrophy is a degenerative muscular disorder mainly affecting the voluntary muscles. This disease was named after the doctor who discovered it in the 1950s. BMD as it is called, affects the heart but not a severely as Duchenne muscular dystrophy. The symptoms of BMD usually start to affect the person during late childhood and adolescence. The first symptoms start with weakness in the legs and pelvis area , as well as the shoulders. It also affects the heart as the myocardium layer of heart muscle tissue slowly deteriorates. As the muscles become weaker, the patient may begin to waddle or walk on their toes to compensate for the weakness of the muscles. The respiratory system is usually the last system affected but eventually
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles." Muscular Dystrophy has no cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org)
Limb-girdle muscular dystrophy is a form of the disease that affects both boys and girls equally and appears in the teenage years all the way into adulthood. It usually progresses slowly over time and within 20 years walking will become difficult or impossible, eventually a wheelchair
Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.
There are over 30 types of Muscular Dystrophy. I am only going to discuss a few of the most common kinds. The first one I am going to discuss is the most common type and the most severe type of Muscular Dystrophy, Duchene Muscular Dystrophy (DMD). This type of MD affects mostly boys between the ages of 3 and 5 and accounts for over 50% of all cases. This deficiency is caused by a lack of dystrophin, a protein that helps reinforce muscle fibers and shield them from injury. This type of disease progresses very fast and by the age of 12 most can’t walk. Some of the signs you might see in an individual with this disease are falling down, trouble getting up from lying down or sitting position, and a swayed gate. As the disease further progresses they will need to be placed on a respirator which can lead to complications and by their early 20’s most pass away (5).