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Conclusion on muscular dystrophy
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Conclusion on muscular dystrophy
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What is Muscular Dystrophy?
Muscular dystrophy is a group of genetic disorders that cause muscle fibers to become unusually fragile and susceptible to damage. The damaged muscles become increasingly weaker over time.
www.mayoclinic.org/diseases-conditions/muscular-dystrophy/basics/definition/con-20021240
There are several different types of muscular dystrophy; Duchenne Muscular Dystrophy (DMD) being the most common and catastrophic in young children. DMD is caused by a deficiency of dystrophin, a cytoplasmic protein that helps strengthen muscle fibers to protect muscles from injury.
Children with DMD often learn to walk much later than their peers because of the progressive weakening of their muscle fibers. It is common for toddlers with DMD to display a medical phenomenon called pseudohypertrophy or “false enlargement” of the calf muscles due to muscle tissue possibly containing scar tissue. By school age, children may walk abnormally – on their toes or the balls of their feet with a slight waddle – making it difficult to keep their balance. Teenagers with DMD may need extra assistance or mechanical support when performing activities involving the arms, legs, or trunk. Because of the deficiency of dystrophin, children with DMD can also weaken the myocardium, or muscular layer, of the heart resulting in cardiomyopathy. Over time, the damage done to the heart by DMD can become life threatening. Duchenne’s also takes a dramatic toll on the lungs, weakening the diaphragm and making the intake and output of air less effective.
Almost one-third of children with DMD have been diagnosed with some type of learning disability. Doctors believe that abnormalities in dystrophin may have subtle effects on cognition and behav...
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...es rapidly. Most people with DMD are unable to walk by age 12 and may need a respirator to assist in breathing later in their life. They usually die in their late teens or early twenties from respiratory complications, infection, or heart trouble.
www.nichd.nih.gov/health/topics/musculardys/conditioninfo/pages/types.aspx
Bibliography
Clinic, Mayo. "Muscular Dystrophy." Definition. N.p., n.d. Web. 14 Mar. 2014.
"Duchenne Muscular Dystrophy." Muscular Dystrophy Association. N.p., n.d. Web. 14 Mar. 2014.
"Recommended Assessments." - Parent Project Muscular Dystrophy. N.p., n.d. Web. 14 Mar. 2014.
"What Are the Types of Muscular Dystrophy?" What Are the Types of Muscular Dystrophy? N.p., n.d. Web. 14 Mar. 2014.
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Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
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 ...
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.
Lou Gehrig's disease is often referred to as Amyotrophic lateral sclerosis (ALS), this is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons come from the brain to the spinal cord and from the spinal cord to the muscles throughout the entire body. The progressive degeneration of the motor neurons in ALS would eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is also lost. With voluntary muscle action progressively affected, for this reason patients in the later stages of the disease may become totally paralyzed (Choi, 1988).
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, 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...
Heart Failure Overview WebMD Reviewed by Thomas M. Maddox, MD on May 28, 2012 http://www.webmd.com/heart-disease/heart-failure/heart-failure-overview
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)
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Some characteristics of DS are: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options. Improvement can be made through physicians, special education, physical therapy, speech therapy, occupational therapy, and psychol...
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...
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