Abstract This paper examines the underlying genetic cause and the resulting muscular infirmities of people suffering from Duchenne Muscular Dystrophy (DMD). The paper discusses the patient's and caregiver's coping mechanisms. An overview is presented of the diagnosis, diet and treatment options available.
From the Paper "Duchenne Muscular Dystrophy is the most commonly occurring muscular degenerative disorder among the more than 20 different varieties of muscular dystrophies. This disease has an incidence rate of 1 case in every 3500 boys. [Cold Spring Harbor Laboratory] It is a genetically inherited disease which affects only the male sex and is characterized by gradual weakening of the muscles. Like other muscular dystrophies DMD is a progressive disease creating postural imbalances and difficulties in movements. Though, primarily a disease that results in physical handicaps, in some cases, cognitive impairments may also be manifest. DMD is a fatal disease and very few people survive the disease into their thirties. The absence of any cure for the disease implies severe psychological implications for both the caregivers and the patient. "
A brief history of the discovery and early treatment of this disease followed by an in depth analysis at the molecular level, ending with a summary of treatments and the future of research.
1,345 words (approx. 5.4 pages), 5 sources, 2001, $ 45.95
Abstract This paper details the various issues and describes the research surrounding Duchenne's Muscular Dystrophy (DMD), a disease that affects children, primarily males and is characterized by the degeneration of muscular tissue. The essay discusses symptoms, causes, molecular and cellular defects, how symptoms are derived from cellular defects and possible treatments. The sections covering the molecular aspects of this disease are in depth and scientifically explicit.
From the Paper "Muscular Dystrophy is a debilitating disorder that is characterized by degeneration of muscle tissue. One of the most common forms of this disorder and one that is particularly severe is Duchenne's Muscular Dystrophy (DMD). This disease affects a far greater number of males, approximately 1 out of every 3 500 born, than females (Cooper 1997). The cellular defects associated with DMD are well understood; however, there is still some speculation over the actions that take place at the molecular level. The treatment available for DMD patients is very limited. However, there has been promising research done with stem cells, antibiotics and gene therapies that offer new hope for sufferers of DMD. Many of these studies have been done on mdx mice, an animal model for DMD that possesses the same genetic defect as humans who suffer with the disease (Agrawal et al. 1999). These studies offer a new ray of hope, not only for those suffering with DMD, but also for people who suffer from various types of muscular degenerative diseases."
Abstract This paper examines how myopathy is a general term referring to any disease of muscles and how it can be acquired or inherited and can occur at birth or later in life. It provides a brief look at inheritable myopathies which are caused by a genetic defect such as Duchenne and Becker MD including symptoms and treatment. It also examines Isaac's Syndrome, a peripheral motor neuron disorder.
From the Paper "In diagnosing, DNA may be collected from the blood to evaluate whether one of the known genetic defects is present. Electromyogram measures the electrical activity of the muscle. It involves placing a need into the muscle and recording the muscular activity on a TV monitor. This helps identify which muscles are weakened. A muscle biopsy is involves surgically removing a very small amount of tissue to be examined under the microscope and analyzed for cellular and protein abnormalities. It is helpful for diagnosing central core disease, nemaline myopathy and myotubular myopathy."
Abstract The paper explains that Duchenne muscular dystrophy is caused by an absence of the protein dystrophin. The paper discusses how this causes the muscle tissue to break down and weaken. The paper relates how, sadly, there is no cure for muscular dystrophy. Because of the current absence of a cure, treatment is mostly aimed at controlling the symptoms and maintaining the quality of life of the individual suffering from the disease. The paper notes that one promising advance in the cure for muscular dystrophy is the research done in the area of gene therapy.
From the Paper "Guillaume Benjamin Amand Duchenne (1806-1875), a French neuroscientist, is credited with the official description of Muscular Dystrophy in the late 1860s. Duchenne's interest in electrophysiology and the development of techniques in neuromuscular stimulation led him to research and eventually learn to diagnose cases of what would eventually become the disease referred to as Duchenne Muscular Dystrophy (Enerson). Though, as of 1999, there are over thirty distinct kinds of Muscular Dystrophy, which are separated into nine categories, Duchenne Muscular Dystrophy is the more commonly known form of the disease (MDA)."
Abstract The paper begins with describing the disease and examines its symptoms and forms. It then looks at ways to diagnose the disease through EMGs nerve conduction velocity, muscle biopsy, blood enzyme testing and other genetic testing. The question of treatment is then discussed , specifying treatment such as multidisciplinary team care, adaptive equipment, exercise, diet, orthopedics, surgery, medication, respiratory therapy, and counseling. Current research of the disease is discussed, concluding with a brief history of muscular dystrophy research.
From the Paper "Muscular dystrophy is a crippling disorder caused by the gradual wasting of skeletal muscle and is the most common muscle disease of children. Its course is progressive, with increased weakness and reduction of muscle mass and function. This is caused by changes in the physical and chemical structure of the surface and the internal membranes of the muscle cells. In addition, these children may have learning disabilities or cognitive impairments (Batshaw, 1997). Although the chromosomal location and the underlying gene for most forms of muscular dystrophy have been identified, remission does not occur (Case-Smith, 2001). Clinical forms of the disease are recognized based on the pattern of inheritance, age when symptoms are first noticed, and distribution of the muscles earliest involved."
Abstract This paper discusses the types, causes, diagnosis, symptoms , prognosis and research into cures of Muscular Dystrophy. An examination into the characteristics and differences in the various forms of MD. The author looks at how the gene for MD is now being located, and the DNA combinations are now understood, hoping that soon a cure will be found for this disease.
From the Paper "While there are many forms of MD the most commonly seen ones, are ?myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal and Emery-Dreifuss(Most Frequently Asked Questions About Muscular Dystrophy http://www.mdausa.org/publications/fa-md-qa.html).? Some of them are named after the muscles that are affected and others are founded in the type of trouble they cause for the muscles. There are also some named after the doctors who uncovered the form's existence. ?As the root causes (gene defects) of the muscular dystrophies are discovered, doctors are beginning to change their thinking about how to classify some of the dystrophies."
