Muscular dystrophy is classified under the musculoskeletal disorders which compromise the afflicted body’s ability to protect vital organs, support weight, effectively control motion, store needed minerals and ensure an appropriate supply of red blood cells. According to…
The National Institute of Neurological Disorders and Stroke (NINDS) has defined muscular dystrophies (MD) as “a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance” (NINDS, 2010, par. 3). There are various types with corresponding clinical manifestations and therapy for MDs. In this regard, the essay aims to compare and contrast, one particular type, the Duchenne MD with another type, the Facioscapulohumeral MD. The causes, pathology and treatment would be discussed and evaluated in light of the two identified MDs.
The Duchenne MD is considered the most common form of MD afflicting children, identified to occur in 1 out of 3,500 live male births (London, et.al. 2007, 1791). This type of MD, likewise known as pseudohyperthophy “refers to enlargement of muscles as a result of their infiltration with fatty tissue” (London, et.al. 2007, 1791). The disorder usually appears within the first three to four years of the child’s development.
In a research conducted by Bogdanovich, et.al. (2005), the authors averred that “DMD is characterized by progressive and severe muscle loss that leads to loss of ambulation, with those affected often becoming wheelchair dependent toward the end of the first decade of life. The disease is caused by mutations in the DMD gene resulting in quantitative and/or qualitative disturbances in expression of the gene product, dystrophin” (par. 1).
The symptoms for Duchenne MD include any or a combination of the following: “fatigue, mental retardation (possible, but does not worsen over time), muscle weakness, and ...
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(“Muscular Distrophy Essay Example | Topics and Well Written Essays - 1500 words”, n.d.)
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(Muscular Distrophy Essay Example | Topics and Well Written Essays - 1500 Words)
“Muscular Distrophy Essay Example | Topics and Well Written Essays - 1500 Words”, n.d. https://studentshare.net/miscellaneous/410246-muscular-distrophy.
The patient is a twelve-year-old boy with Duchenne Muscular Dystrophy and is confined to a wheelchair. He showed symptoms of Duchenne Muscular Dystrophy (DMD), as a pre-scholar at the age of 3 his legs were first affected making his walking and balancing a problem. He walked six months later than expected and had problems running.
In the 1870s, descriptions of people (particularly boys) who grew weaker over time, lost mobility, and died young became increasingly prominent in the medical field. During that period, these descriptions were documented in medical journals. In the next decade, Guillaume Duchenne, a French neurologist, provided a comprehensive evaluation of 13 boys with the most prevalent and severe form of the disease (Parker & Philip 14).
It is X-linked and affects mainly males. DMD occurs when a particular gene on the X chromosome (DMD gene) undergoes mutation and the protein dystrophin is not formed. The present article discusses the epidemiology, pathophysiology, anesthesia management with relevance to DMD.
DMD is generally identified by the age of five through its symptoms of delayed motor ability and weakness of the proximal muscles. The consequences of DMD are severe for the individual (Wu, Kuban, Allred, Shapiro & Darras, 2005).
Heart muscles, other involuntary muscles and other organs are affected by some types of MD. “The most common types of muscular dystrophy appear to be due to a genetic deficiency of the muscle protein dystrophin” (ibid.).
The major cause for all kinds of muscular dystrophies is believed to be mutations that take place in individual genes encoding numerous proteins. Among the latter one can find extracellular matrix proteins, cytoplasmic enzymes, transmembrane and
Muscular Dystrophy is primarily characterized by weak skeletal muscles that progressively deteriorate over time, defective muscle proteins, and the eventual demise of cells and tissues constituting the muscles. As muscular Dystrophy is a genetic disorder, patients suffering from it have wrong or missing information in their genes.
This means that any of these diseases can surely arise even though no one in the family has ever been affected or has the abnormality. This paper is going to examine closely one of these muscular dystrophy disorders which is Duchenne muscular dystrophy (DMD).
2 Pages(500 words)Essay
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