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Duchenne muscular dystrophy is a serious condition caused by a recessive allele of a gene
Duchenne muscular dystrophy is a serious condition caused by a recessive allele of a gene
Muscular dystrophy case study
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Hereditary Muscular Dystrophy
In this paper, I would like to research and discuss Hereditary Muscular Dystrophy disorder that had changed my whole opinion, and living sense on this planet. In today days there are so many diseases that cause humans to suffer pain and experience a feeling of being exceptional. Muscular Dystrophy is one of the toughest disorders that require lots of patience and inspiration to fight to endure until the end. I would like to introduce in depth any available resources and cure for people who belong to the MD category to find better quality of life and encouragement to stay alive. I personally choose this topic, because I have been observing my mom fighting with the Muscular Dystrophy disorder all my life. We all
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know that there are no cure and treatment, but all we can do is be strong and hope for better tomorrow. Muscular Dystrophy is a general designation of a group of more than 30 inherited diseases, characterized by the progressive degeneration and weakness of voluntary muscles, which controls movement (CDC). There are two most common types, Duchenne and Becker muscular dystrophy. Duchenne MD, which mostly affects males and it is faster progressing muscular dystrophy, where boys loose ability to walk between ages 7 and 13 years and death in the teens or early 20s. Becker MD is much similar too, but show less weakness and more variable progression of symptoms. I would like to include graph from “Centers for Disease Control and Prevention” interpreting population based prevalence data in the United States of males with Duchenne and Becker muscular dystrophy. Retrieved from: http://www.mda.org.au/Disorders/Dystrophies/LatterOnset.asp. According to this data, percentage of Males with DMD three times higher than the prevalence of BMD. IDEA act helps states and local neighborhoods to protect the rights of, and the meet needs of infants, toddlers, children with disabilities and their families (U.S. Department of Education). Thankfully to the IDEA act that was established in 1975, each and every exceptional child can get special intervention and care, which helps children to attend general classroom and accomplish a higher level of knowledge and be a part of the society, which we all know was unavailable to us in past generations. Children with physical disabilities required to get special education, some of them able to get education in general classroom with minimal accommodations, whereas others require specialized instructions, environmental modifications, therapy and related services (Heward, p. 397). First of all, MD is caused by a deficit of protein called “Dystrophin” this muscle is responsible to keep muscle cells intact, but when mutated gene miscarry to produce protein, muscle becomes weaker and lose it’s strength. To determine the stage and progressiveness of MD many blood tests being assigned to determine levels of protein, since in most of the cases MD belongs to Hereditary disease, genetic testing also very important to be done and figure genetic mutation of the muscle protein “dystrophin”. Also, Electromyography (EMG) to measure muscles strength. Final step is to obtain more detailed diagnosis, to have muscle biopsy, which will help to define MD degree and category of the disease (MDA). In addition, Muscular Dystrophy in most of the cases demonstrates muscle weakness by in early childhood or teen years, might also appear at the adulthood and usually found in boys, but in very rare cases it can affect girls. Depending on the effected age spam some might experience slight weakness of the muscle and continue a normal life span with few restrictions and slow progress like, walk with unusual gait difficulty in running and other mild symptoms. On the other hand, unexpectedly some rapidly move with severe muscle weakness and waste, they can’t walk at all, their upper and lower extremities being affected muscle power no longer exist its being replaced by fatty tissue (Heward, p.397). Predominantly, boys might have some severity of learning disabilities, even though MD does not affect the brain, since the brain is not a muscle, but dystrophin abnormalities might cause behavioral problems and emotional interaction. The worst part of MD is the final stage, when heart and lung muscle being affected and the condition can become life-threatening (The Muscular Dystrophy Association) Retrieved from: https://www.mda.org This is when assistive technology comes to help.
MD requires the use of low-tech assistive devices, as well as high-tech assistive devices. Wheelchair, power wheelchair, standing walker is a great mobility devices that help MD children to move freely and explore places without restrictions. Being able to go places and be part of the society is very important, especially for children with physical disabilities that are why wheelchair is number one assistive technology for Muscular Dystrophy patients. Since MD predominantly affects males depending on their gradual weakness many of them starts using a wheelchair as early as five years old. This graph indicates percentage use of a wheelchair in boys with Muscular dystrophy ages 5 through 25, as we can see usage increases as the child gets older in age and more progressed weakness appears. (Centers for Disease Control and …show more content…
Prevention). Muscular Dystrophy Association provides enormous help, support and increases better quality of life for people who has any neuromuscular diseases, they maintain close contact with their patients as well as affording different types of research in order to break through and find treatments and cures. Once the patient is registered with MDA they are get monthly magazines with new services, and invitations to join and any available activities for people with exceptionalities. Also, Centers for Disease Control and prevention is a great resource for people with any disabilities. They provide more physicians, nurses and professionals to help, care for people living. Especially people with limited strength require extra partnership with families to fulfill and provide best care for our loved once. Retrieved from: https://www.mda.org and http://www.cdc.gov. Sadly, in today’s days there is not specific cure to stop or overturn from any Muscular Dystrophy disorder.
Some of the medical treatments can help maintain comfort and function of a child. Sooner or later, Physical therapy, Occupational therapy, Speech therapy and Respiratory therapy all required breaking through and retaining courage to fight until the end. Drug treatment also used in all of the cases to reduce stress and pain of the patients, like corticosteroids to slow muscle degeneration, pain relievers sometimes use of antibiotics necessary to fight any infections. Retrieved from: http://kidshealth.org/en/teens/muscular-dystrophy.html.
In conclusion, Muscular Dystrophy belongs to one of the rare disorders in the world, but even though people who live with it are suffering from pain and abnormality. MD is different for everyone, some may show slow progress and weakness, which is much easier to handle and live with, whereas, others rapidly move with huge dystrophy and become fully immobilize. Nevertheless, families and patients with Muscular Dystrophy should find effective ways through available resources and institutions to come to light, because MD should not keep any child from enjoying their live and being part of the
world.
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Symptoms can appear at any age normally between infancy and age six. Normally, the first symptom of duchenne muscular dystrophy is a delay in milestones that normal children have. For example, there may be a delay in when a child with DMD learns to walk, sit or stand by themselves. Children without duchenne muscular dystrophy normally begin to learn to walk at around nine to twelve months, and can walk well around fourteen to fifteen months. Parents and doctors become concerned after sixteen to seventeen months. However, the average age that a child with duchenne muscular dystrophy begins to walk is eighteen months. In muscles in the legs and pelvis, there is progressive weakening and wasting. There is also a little weakness found in the neck, arms, and other upper body muscles, but the weakening in worse in the lower half of the body. Muscles weaken by enlarged muscle tissue being replaced by connective tissue and fat. Muscle fibers then shorten due to the r...
... patient complete daily living activities and maintain mobility. Pulmonary function information should be recorded and used for reference as the disease progresses. As time passes you may need to resort to the use of a ventilation system or feeding tube which will only make things harder. There is no permanent treatment for ALS but there is a medication that slows the effects and degeneration of the disease. Riluzole is taken twice a day by mouth in 50mg tablets and has shown to increase life expectancy by 20%. If you decide to take Riluzole you must complete a complete blood count and liver function test every three months for nine months. The medicine works by slowing the time it takes for glutamate mediated motor neuron cells to die. And lastly if you have any other concerns, questions or problems you can always speak to your family therapist or physician.
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)
There is no cure for ALS at this time and treatment is focused on management of the symptoms, involving a combination of physical therapy, occupational therapy, and speech, respiratory, and nutritional therapies. Moderate exercise may help maintain muscle strength and function. Drugs can also treat excessive saliva and drooling, and speech therapy can help compensate for loss of muscular control of the mouth. As the disease progresses and muscular degeneration spreads throughout the body, various devices may provide support, such as ankle braces, neck collars, reclining chairs, wheelchairs, and hospital beds. Respiratory support and feeding tubes are required when the person loses cont...
Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...
Muscular dystrophy refers to, not one, but a group of muscle diseases. These diseases have three features in common: they are hereditary; they are progressive; and each causes a characteristic and selective pattern of weakness. Duchenne muscular dystrophy (DMD) is the most prevalent and severe childhood form of this group of diseases.
Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene that generates a protein called dystrophin. The function of this protein is to help muscle cells keep their strength and shape. Without the presence of this protein, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart c...
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Jayden, a two and a half year old boy loves story time, being social, and has mental and sensory functions typical for his age. However, Jayden was diagnosed with impairments in his neuromusculoskeletal and movement functions. This condition causes poor muscle control, which prevents Jayden from being mobile. As a result, Jayden sits in a baby stroller when out in the community. Adding to Jayden’s problems is dysarthria, which restricts him from producing clear speech, preventing him from communicating with peers and adults. The combination of Jayden’s neuromuscular skeletal impairments and dysarthria, restricts his engagement in self-care, communicating with classmates, directing his own play, creating interpersonal relationships, mobility
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
As a young child, I remember how my grandfather's disability affected my life. I don't think that I even knew what the purpose of his wheelchair was. To me, it was just a toy, just another toy that my cousins and I could play with.
Michael is a 19 year-old man. At the age of three, Michael was diagnosed with Duchenne Muscular Dystrophy. Michael’s condition has impacted his physical functioning and the ability to take care of himself. Michael feels others are often judging him and his condition when he is in public. Michael wants to be independent and gets frustrated easily when others are helping him. He lashes out at those around him and gets agitated easily in his day-to-day life.
...s it something that patients can look forward to even with treatment. Physically, muscular dystrophy is a burden but it also affects the person’s social participation. Young children may not understand or want to play with children with muscular dystrophy. Also playgrounds may not be equipped with the adequate equipment to allow children with muscular dystrophy to participate.
The goal of getting treatment, however; is to slow down the progression and worsening of symptoms to help the person function as long as possible. There are medicines that can help. Dopamine blockers can help reduce abnormal behaviors and movements while drugs like amantadine and tetrabenazine can be used to try to control extra movements. People with this disease generally die within 15-20 years, or around 10 years for children. The cause of death is often an infection, like pneumonia, injuries related to falls, troubles involving the inability to swallow, and often