SMA is largely an inherited autosomal recessive disease caused by mutations in chromosome 5q that lead to a deficiency in SMN1-related proteins. In rare instances (2-3% of SMA), SMA can occur de novo rather than inheriting a defective copy of the gene from each parent. This deficiency results in degeneration of motor neurons causing muscle atrophy, particularly in the limbs and the muscles that control the mouth, throat and respiration. There are four types of SMA, types I, II, III, and IV which are defined based on the severity of muscle weakness and the age of symptom onset. SMA type I (Werdnig-Hoffmann disease) is the most severe. SMA type I-affected infants represent approximately 60% of SMA diagnoses and present with the disease by 6 months of age. These infants are profoundly hypotonic and often succumb to complications of the disease by their second year of life. SMA type II affected children (intermediate form) present with symptoms prior to 18 months of age and develop the ability to sit unaided but not the ability to stand or walk. Individuals affected by SMA type III (Kugelberg-Welander disease) are also generally diagnosed by 18 months but are able to stand and walk. SMA type III affected individuals may live into their thirties and …show more content…
Therefore, although the role of SMN protein in motor neurons is not completely understood and the amount for normal functioning undefined, the phenotype of spinal muscular atrophy (type I, II, III, or IV) is largely related to the number of SMN2 gene copies present. The number of copies of SMN2 in individuals diagnosed with SMA has been found to negatively correlate with disease severity. For instance, infants diagnosed with SMA type I, are likely to have two copies or less of SMN2 and individuals with SMA type III and IV are likely to have three copies or more (Mailman, et al., 2002)
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.
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.
have been cases of ALS linked with the mutation in the gene that produces SOD1
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
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).
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)
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
Personal statement. In contrast with the formal writing sample, we use the personal statement to get to know you a little better. The personal statement should be a maximum of 1700 words. Please use the personal statement address the following three questions:
This essay aims to explore the characteristics that make a good quality social work assessment in child care. Martin (2010) stated that there was “no single agreed definition of social work assessment.” Coulshed and Orme (2006, p24) did not offer a formal definition but they described assessment as “…a basis for planning what needs to be done to maintain, improve or bring about change in the person, the environment or both.” According to the Maclean and Harrison (2015) good assessments must be “purposeful and timely.” This is because practitioners need to be clear about why they are carrying out assessments and what it is they wish to achieve at the end of that assessment.
Approximately one in three thousand children are born with this disorder and it does not progress over time. There does not appear to be any precedence as to sex or race and it is developed at conception. There are several types of Arthrogryposis which include Amyoplasia, Distal, Classic, and Syndromic. According to the Shriners hospitals for children, Amyoplasia is an overall lack of muscular development and growth with contracture, a loss of joint motion, and deformity of most joints. Babies with this type have dense fibrous tissue and fat instead of skeletal muscle. Distal affects several joints usually in the hands and feet, and range of motion may be slightly limited. Classic usually affects the hands, wrists, elbows, shoulders, hips, feet and knees with different degrees of severity. The most severe case can affect almost joint ...
To truly understand why women or why some women continue to accept their second class citizenship status to men, one must become aware of the lived experiences of these women. As Patti Lather suggests, people must be the narrators of their own stories (Critical inquiry in qualitative research: Feminist and poststructural perspectives: Science “after truth”). Until we become aware of these perceived “second class” citizens’ stories, we are only left to postulate based on our own experiences.
"Do not become a social worker. You will not make any money and you will be stressed out all the time." My maternal grandparents were foster care parents from the 1980 's until April of this year. In that time they hosted over 250 children from a variety of cultural and ethnic backgrounds. As a child, I spent much of my time at my grandparents house and was exposed to the multiple aspects of the foster care system. I became close with the social workers who came to my grandmother 's house and when it came time for me to make a career choice, they all discouraged me from becoming a social worker. Despite their warnings I graduated with my Bachelor 's of Social Work from Saint Louis University in 2013 and began to work on my Master 's in Social Work in August of 2014.
Definition: Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1)
Having certain living and working boundaries, people with disabilities would benefit from conditions helping them to increase their marketability and competitive performance, adjust employment terms according to individual rehabilitation and vocational programs, as part of a general social inclusion strategy. Simple optimization of labour legislation will not heal multiple symptoms of discrimination.
I am the product of divorced parents, poverty stricken environments, and a blended family, but I refuse to let that dictate the outcome of my life. At the age of ten, I had to assume the role of a fatherly figure to my three siblings, so I missed out on the typical childhood most would have had. I grew up in neighborhoods where gangs and criminal acts of violence were a pervasive occurrence, but I resiliently did not allow the peer pressures of others to force me to conform to their way of life. By the age of 15, I received my worker 's permit, and that allowed me the ability to help my mother financially in the absence of my father’s income. I worked the maximum amount of hours I could while balancing my academics and extracurricular school activities. I was a scholar athlete and triathlete in high school, and although I continuously faced much adversity, I still managed to be accepted to the University of California State, Bakersfield after I graduated from high school in 2005. Sadly, after