Duchenne Muscular Dystrophy and Ground-Breaking Research
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.
…show more content…
The researchers are looking at a method of using this gene replacement in a way that a virus would infect a host. Meaning the scientist would engineer a virus that has healthy dystrophin genes within in it, then they will use this virus to infect the host, being someone who has DMD, in hopes that the engineered virus will act like a real virus and replicated once it has entered. Once the healthy genes have been replicated the muscles can uses these health dystrophin genes for muscle repair to reverse this disease. Getting into Myosin inhibitors, this therapy is used to stop Myostatin from being produced. Myostatin is a protein produced naturally by the body to stop muscle growth, In DMD patients muscle growth is detrimental, stopping this proteins production in would allow muscle to continue to grow in DMD patients. The Pharmaceutical Company Pfizer is currently developing a myostatin inhibitor which is currently undergoing clinical trials to be used I DM patients(MDA). In Stem cell Transplant in DMD patients, researchers are hoping to accelerate the rate of muscle repairer. Scientist are doing research with how stem cells can be used to repair damaged muscles and tissues in DMD patients. Stem cells play a huge role in repair and maintance in the body, taking healthy stem cells from a donor and transplanting them
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.
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.
Listener Relevance: Duchenne Muscular Dystrophy (DMD), is more common than people think and chances are sooner or later you will know of or see somebody affected by this disease.
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)
Duchenne Muscular Dystrophy was first discovered in the 1860s by a French neurologist which went by the name of Guillaume Benjamin Amand Duchenne de Boulogne. Guillaume was the first to consider multiple types of muscular atrophy and paralysis which were caused by nerve disorders. He discovered that muscular atrophy was caused by a degeneration of the dorsal columns of the spinal cord. During the 1860s, Duchenne de Boulogne assessed and described the progressive muscle weakness within 13 boys. Using an instrument that Guillaume, himself had developed, he was able to remove portions of tissue found deep within the body which assisted with the discovery of biopsy practices.
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.
Television ads, social media posts, and news reports regarding weight loss supplements and strategies reveal society’s growing concern over its physical appearances. While anorexia and bulimia are commonly known eating disorders where people alter their eating habits in unsafe methods because they feel they are too big, muscle dysmorphia is a less renowned perception that leads those who suffer from it to feel as if they are too small. Unlike those who feel they are too big and change their consumption of foods, those who have muscle dysmorphia can develop a dependence on steroids rather than food alone to achieve the results they desire. In reality, though, those who suffer from muscle dysmorphia are likely to be unsatisfied with any progress
Duchenne muscular dystrophy is a genetic disease that pertains only to males caused by a defective gene and normally leads to many problems affecting a child’s leg movement. This disease got its name from the neurologist, Guillaume Benjamin Amand Duchenne. He was a very consistent doctor who followed many patients medical records. He diagnosed one of his patients with muscular dystrophy and then the disease picked up his name, due to his founding.
Genetics is a key factor in potentially developing a form of muscular dystrophy, as it is caused by a gene that protects muscle fibers suddenly becoming defective. However, this particular genetic mutation can abruptly occur while an embryo is still developing in the egg of the mother. Muscular dystrophy can occur in an individual of any age, sex, or race. The most common form of MD diagnosed, Dechenne, is most often found in males of a youg age. However, family history of the disease is the biggest risk factor associated with developing it.
The use of creditable and appropriate resources is important for educators because all internet should be adept at critically evaluating information (Rankin, Stallings & London, 2005, p.380). To ensure that information is unbiased, accurate, and up to date and clear to the reader the educator should evaluate each resource that is going to be used (Rankin, et al., 2005, p. 280). Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass (Muscular Dystrophy Canada, 2015). The Muscular Dystrophy Canada has developed a web page available for those effected by muscular dystrophy and their caregivers. It is located at the web address www.muscle.ca. Information on this site
Duchenne?s muscular dystrophy usually affects the patient by age five, and they?re usually in a wheelchair by the age of twelve. Over time the muscles weaken in the shoulders, back, arms, and legs. Eventually the respiratory muscles are affected, and a ventilator is required to assist with breathing. Kids with this form of MD usually have a life span of around twenty years. Most kids with Duchenne?s muscular dystrophy are of average intelligence, although one-third of MD cases also experience learning disabilities, and a few cases have mental retardation. (www.kidshealth.org)
Emery-Dreifuss muscular dystrophy (EDMD) is a rare form of muscular dystrophy. It is another one that only affects boys that appears from childhood to the early teen years and sometimes as late as the age of twenty five. It causes muscles weakness and wasting in the shoulders, upper arms, shins, and often causes problems with the joints becoming tighter. Life threatening heart problems are common and can also affect those who do not have this disease, but simply carry the genes for it. This is a slow progressing disease and often has slow progressing muscle weakness compared to other forms of muscular dystrophy.
Muscular Dystrophy is a disorder that decreases the function of the body’s muscles and others that control vital organs. Muscular dystrophy means that the muscles lack nourishment causing them to lose their function and break down. All muscular dystrophy diseases have three things in common: they are all progressive, each have the same characteristics and cause weakness, and are hereditary. The word dystrophy originates from the Greek terms “dys,” meaning abnormal, and “trophe,” meaning nourishment(Westrum, Schade). Several of these diseases are very harmful to a person’s movement. It is caused by a mutation to a gene and is shown at birth or later in childhood.
First of all there are many different forms of Myopathy but they all have to do with the effect of muscles connected to bones. Some examples would be the biceps which are in the upper arm and the quadriceps in the thigh. These Myopathies can be caused by a few things such as inherited genetic defects or by endocrine, inflammatory and metabolic disorders. Mostly all the types of this disease produce weakening and wither of skeletal muscles, especially the proximal muscles. Some examples would include the thigh and shoulder muscles. There are muscles that are affected less and those muscles tend to be distal from the body. Some examples would be hands and feet. Muscular dystrophies, which is a myopathy disease, tends to develop at an early age.
Bigorexia as know as muscle dysmorphia and both have definitions. Bigorexia is defined as “a mental disorder characterized by a normal person´s obsession with an imagined defect in physical appearance; also called muscle dysmorphia” and muscle dysmorphia is defined as “a mental disorder primarily affecting males, characterized by obsessions about a perceived lack of muscularity, leading to compulsive exercising, use of anabolic steroids, etc.” in dictionary.com.