“Communication is the imparting or interchange of thoughts, opinions, or information by speech, writing, or signs” (Dictionary.com, 2014). It is expressive and comprehensive. It is a vital part of life, especially for humans since we are social beings. Our muscles, which make up about forty percent of our body, help us accomplish multiple tasks. From yawning to lifting, to dancing, breathing and communicating, muscles help us along the way. Imagine your muscles working less and less and eventually not working at all. This is what happens in the most severe case of muscular dystrophy. Muscular dystrophy results in the degeneration of muscles. The National Institute of Child Health and Human Development states that there are more than 30 types of MD; the most common and severe form being Duchenne muscular dystrophy, or DMD (2012). Let’s explore how DMD works and how much of an impact it has on intelligence, cognitive function and communication overall.
DMD is a disease caused by lack of dystrophin. Without dystrophin the muscle cells are easily damaged. Sussman theorizes that smaller fibers with central nuclei appear and may represent an attempt to combat the generative process. It is proposed that these are secondarily formed, immature muscle fibers that seem to be relatively less affected by the absence of dystrophin. The degenerative process becomes more marked with time, and by the teenage years, there is a predominance of fibrofatty tissue with only occasional remaining muscle fibers (2002).
Compared to other muscles diseases, the progression rate of DMD is very fast. Patients are generally in wheelchairs by the age of 10. They usually don’t make it to early adulthood because by then vital muscles, such as the heart, are comp...
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Spinal Muscular Atrophy, also known as “SMA” is a genetic and also a motor neuron disease that affects the area of the nervous system that controls your voluntary muscle movements such as walking, crawling, and swallowing. When someone acquires this condition their muscles start to shrink as a cause to the muscles not receiving signals from the nerve cells in the spine that control function. Spinal Muscular Atrophy is a rare but serious condition.
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.
As you know, Robert was diagnosed with Duchenne Muscular Dystrophy last week. I share my condolences for your family, as this must be a tough time for the both of you. In this letter there will be information regarding what Duchenne Muscular Dystrophy is, how it is caused, how it is treated, and the daily life of those affected by Duchenne Muscular Dystrophy and their family members. Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant sex-linked disorder that mostly affects males, and it affects one in 3,500 males (Furlong, 2015).
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...
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).
Muscular dystrophy is a complex disease that has been around for many years. Although it was discovered in the 1830s there is constant discoveries about the disorder. (“New knowledge about Muscular dystrophy,” 2014 May 5) There are several research studies being done around the world to help find a cure. Here’s to hoping that a cure will be found and no more lives will be taken by this debilitating disease (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
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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.
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.
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