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Muscular dystrophy discovered
Muscular dystrophy discovered
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Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the X chromosome, and affects predominately males. Most MD are multisystem disorders and can affect other body systems that include the heart, gastrointestinal, nervous system, endocrine glands, eyes and brain. There are over 50,000 people in the United States that are diagnosed or living with muscular dystrophy. The following are the nine major forms of muscular dystrophy: • Myotonic: muscles have difficulty relaxing. • Duchenne: most common form of the disease. This for is found to be genetic. This is form is passed on through the mother who is a carrier or family has a history of the disease. Symptoms start about the ages of 2 to 6 and by the time the child is about the ages of 10 to 12 the child would be in a wheel chair. • Becker: this form affects boys. It starts at a later stage in life and can be less severe. Patients have been known to have problems with breathing, heart, muscles, and joints. Also been known to live long active lives without a wheelchair. • Limb-girdle: affects boys and girls equally. This form progresses slowly and affects the shoulders, upper arm, hips and thighs. • Facioscapulohumeral: affects boys and girls. It begins in their early teens or early adulthood. This form affects the face, shoulders, and legs.... ... middle of paper ... ...rieved 9 April 2007. 3. Emery AE (2002). "The muscular dystrophies". Lancet 359 (9307): 687–695. 4. k on Implementation of the MD CARE Act, as submitted by Department of Health and Human Service's Motlagh B, MacDonald JR, Tarnoplosky MA. Nutritional inadequacy in adults with muscular dystrophy. Muscle Nerve. 2005;31(6):713-8. 5. R.M. Lehman & G.L. McCormack, 2001. Neurogenic and Myopathic Dysfunction pp. 802-803. In L. Pedretti and M Early Occupational Therapy Skills for Physical Dysfunction 5th ED St Louis MO: Mosby 6. Sarnat HB Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF,eds.Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap601 7. Bushby RF, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul a, et.al Diagnosis and management of Duchenne Muscular Dystrophy. Lancet Neurol. 2010;9:77-93.(PubMed:19945913)
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.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Sacket et al, cited in, Duncan, E,A,S, (2006) Foundtions for practice in Occupational Therapy, 4th edition, Elsevier Ltd.
Muscular Dystrophy is a diverse group of disease which involves the weakness and wasting of muscles and leads to many other problems in physiological system. It is because of mutation in gene related to contraction and relaxation of muscles. Although recently no perfect treatment option is available for it but in nearby future cure of this disease will be available due to advanced technology and methods like gene therapy and stem cell technology.
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick. They also sometimes changed by scar tissues. On the other hand arrhythmia is a disorder with the rhythm or rate of heartbeat. The heart can beat fast, which is called tachycardia or it could be beating too slow, which is called bradycardia. Emery-Dreifuss muscular dystrophy is characterized by early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
Occupational Therapy takes a client-centered approach to each individual and unique client. This client is Martha. She is 78. She was admitted to the hospital after suffering a cerebrovascular accident (CVA), or stroke. It began when she experienced a choking episode and weakness in her right side. The CVA resulted in right hemiplegia and aphasia. Martha has partial paralysis in the right half of her body and cannot verbally communicate. Her primary role is a homemaker. She graduated with a high school education but never pursued a profession. She is the wife of a healthy and supportive 80 year old man. He intends to care for her at home with private assistance. Some of Martha’s meaningful occupations are playing games such as bingo, solitaire and bridge. She also finds satisfaction in tending to her garden.
Kielhofner (2009) states “In the late 1940’s and the 1950s, occupational therapy came under pressure from medicine to establish a new theoretical rationale for its practice. Critiques arose from both Medicine and physicians regarding the concepts used in occupational therapy. Based on those comments, occupational realized the immediate need for a new paradigm. As Kielhofner mentioned “Occupational therapist came to believe it would bring occupational therapist recognition as an efficacious medical service and increase its scientific respectabilities
After a person reads this article, I can highlight some of the main points in the article to give them a better understanding of what is occupational therapy is in the psychosocial aspect. It is important for me to keep this article on hand because if someone wants to look up what I do and they do not know where to begin, I can give them this article to read to get a basic understanding of what I do and they can get an idea of what to research. This article is not only for clients and client’s friends and family, but it can be used for occupational therapists and occupational therapy assistances. This article can be used as a refresher for a therapist if they are having a hard time remembering something about this
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Duchenne Muscular Dystrophy, commonly referred to as DMD, is a life threatening disease. There are many different forms of muscular dystrophy, Duchenne being one more serious. DMD begins to show at a young age. This particular form of muscular dystrophy is mostly found in males. Duchenne is carried by the mother on the X chromosome but often, the event of having this disease is just a “fluke.” Duchenne Muscular Dystrophy is a deadly and unfortunate disease but new research that is being done may be the cure many are looking for.
Reilly M (1962) Occupational therapy can be one of the great ideas of the twentieth century. American Journal of Occupational Therapy, 16, pp. 300-308
Occupational therapy was based off of psychology; we evolved from treating mentally ill patients with isolation as an efficient treatment plan. We must never forget we are known to be “the art and science of helping people do the day-to-day activities that are important and meaningful to their health and well being through engagement in valued occupations” (Crepeau, Cohn, & Schell, 2008). To other professional disciplines this article explains the difference between each of us, yet can also express our relation to one another. The basic goal of all therapeutic disciplines is to better our clients life, through physical, speech or occupational therapy. Every discipline targets different goals, may it be body mechanics, reducing a stutter or buttoning a shirt, at the end of the day our clients well being may it be through science, art or both is all that matters. To the occupational therapy field this article means progress for what we do. Reading this article today in the year 2015 did not seem like old information to me, it is still relevant, I am proud that our field is not only evolving with contemporary time but it is also maintaining its
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)
Cole, M. B., & Tufano, R. (2008). Applied theories in occupational therapy: A practical approach. Thorofare, New Jersey, United States of America: Slack Inc.
Also, there is not a known treatment that has single handedly stopped the source or progression of the disease. However, there are many new and assuring treatments that are being clinically tested now. Most of the treatment that patients with Duchenne muscular dystrophy undergo is generally targeted towards their symptoms. Medicinal and physical therapy help to manage these symptoms to help patients live a more comfortable lifestyle. To accurately diagnose a patient with Duchenne muscular dystrophy, genetic testing is essential. Some diagnostic tools to aid in this determination include patient and family history, a CK level blood test, and a physical examination. Patients with Duchenne muscular dystrophy have a life expectancy up to their teen years. Now however, these patients have been able to live up into their thirties. Survival of this disease has increased in recent years due to medical advancements. Now patients with DMD are living into their thirties, getting married, having kids, and pursuing careers. Last year, researchers conducted an experiment using CRISPR as a method to take out the mutated DMD gene from the DNA of