The basic definition of myopathy is a disorder of the muscles usually causing muscle weakness. There are many different types of myopathy; however the three that will be discussed are inflammatory, congenital, and mitochondrial. Inflammatory Myopathy is the inflammation of the muscles. Congenital Myopathy is a delay in motor skills, skeletal and facial abnormalities which are shown at birth. Mitochondrial Myopathies are caused by genetic abnormalities. The history of myopathy is quite unclear; however in 1999 a new discovery of muscle disease in infants was made by Professor Laing. Since Professor Laing's discovery, world-wide identification of mutations in actin, has been shown to cause muscle weakness, sometimes called floppy baby syndrome. (Perkins expert helps revolutionise world view of disease, 2014)
Anyone can develop myopathy. Women get myopathies about twice as often as men. These diseases affect all ethnic groups. (Inflammatory myopathies, 2013) Out of about 100,000 people, 5-10 suffer from a type of myopathy. With most who suffer from myopathies, weakness occurs in the muscles of the shoulders, arms, legs, and the pelvis. In those cases of advancement of the disease, the muscles of the hands and feet may also be weakened. Other signs would be aching of the body, cramping, stiffness, tenderness like the tingling one may experience from muscles falling asleep, and a sense of tightness. Some normal activities would be difficult to do for someone suffering from myopathy like walking up and down stairs or even around the house.
Diagnoses are usually done by a neuromuscular specialist. Generally, a diagnosis involves several outpatient tests to determine the specific type of myopathy. In some cases, it is necessary to wait...
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Works Cited
NINDS Myopathy Information Page. (2014, April 16). Myopathy Information Page: National Institute of Neurological Disorders and Stroke (NINDS). Retrieved May 2, 2014, from http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm
Swierzewski, III, M.D., S. J. (2010, September 14). Myopathy Diagnosis. Myopathies. Retrieved May 3, 2014, from http://www.healthcommunities.com/myopathies/diagnosis.shtml
Perkins expert helps revolutionise world view of disease. (2014, January 1). Harry Perkins Institute of Medical Research. Retrieved May 3, 2014, from http://www.perkins.org.au/news/perkins-expert-helps-revolutionise-world-view-of-d
MD, M. M. (2013, January 1). Inflammatory Myopathies. Retrieved May 7, 2014, from http://www.rheumatology.org/Practice/Clinical/Patients/Diseases_And_Conditions/Inflammatory_Myopathies/
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...
Duchenne muscular dystrophy (DMD) is a muscular dystrophy that only occurs in boys. It is caused by the mutation of the DMD gene which is inheritable between families in an X-linked recessive, but it rarely occurs in people from families without a known family history of the condition. Starting from the lower limbs, people with DMD have progressive loss of muscle function and weakness. The DMD gene, which encodes the muscle protein, dystrophin, is the second largest gene. Boy’s muscle with Duchenne muscular dystrophy does not create the dystrophin. 1 in 3500 of the male births are approximately affected by the Duchenne muscular dystrophy.
Medicine.yale.edu. (2014). Amyotrophic lateral sclerosis (als) > neurology | yale school of medicine. [online] Retrieved from: http://medicine.yale.edu/neurology/divisions/neuromuscular/als.aspx [Accessed: 9 Jan 2014].
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 ...
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
ParkinsonDotOrg. "National Parkinson Foundation: Believe in Better." National Parkinson Foundation. N.p., n.d. Web. 02 Oct. 2016.Biology Research Paper: Parkinson’s Disease
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Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
The first historical account of muscular dystrophy was identified by Sir Charles Bell in 1830. He wrote about a disease that caused weakness in boys that progressively got worse. In 1836 another scientist whose name is unknown reported about two brothers who developed muscle damage, generalized weakness. Also damaged muscle was replaced with fat and connective tissue. At the time the symptoms were thought to point to tuberculosis. During the 1850s reports of boys with progressive muscle weakness became more and more common. There were also reports of these boys losing the ability to walk and dying at an early age. In the next decade French neurologist Guillaume Duchenne gave and in depth account of 13 boys who had the most common ...
The big picture. Where the two schools of medicine differ is in philosophy. Doctors of osteopathy "treat people, not just symptoms," says Karen Nichols, dean of the Chicago College of Osteopathic Medicine. "The course list looks exactly the same, but the M.D.'s focus is on discrete organs. The osteopathic focus is that all of those pieces are interrelated. You can't affect one with out affecting another." That means paying more than simple lip service to the idea of the "whole" patient: It means that diagnosis and treatment rely on an examination of a person's environment and family and general situation as well as his or her body. Not surprisingly, about 65 percent of the nation's 52,000 licensed osteopaths (by comparison, the country boasts at least 900,000 M.D.'s) are primary-care physicians. The American Association of Colleges of Osteopathic Medicine has a description of osteopathic training, as well as short profiles of 20 schools, at www.aacom.org. The D.O. programs and their contact information are listed in the directory section of this book.
When a person begins to suffer from Guillain- Barre Syndrome their myelin sheath of their nervous system is being attacked and destroyed by the immune system (NINDS, 2011). The myelin sheath begins to lose its ability to transmit signals rapidly and affectively. Since signals are not getting transmitted to the brain fast enough, a person begins to notice fewer sensory responses from the rest of the body (NINDS, 2011). A person wouldn’t be able to tell right away or at all if an item they are touching is hot, cold, or causing pain. There also wouldn’t be good signal transmission from the brain to the rest of the body (NINDS, 2011). There would be signs of the muscles being unable to respond to the weakened or distraught signals they were receiving. Since the myelin sheath is responsible for transmitting the signals from a long distance, the upper and lower extremities would be the first to show signs of muscle dysfunction.
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