Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig’s disease, is a genetic disorder that has proven to be very fatal to those who have it. A flaw in the DNA of a person can result in this disease, taking their life for an unexpected turn. I chose ALS to study because after hearing about several cases and reading Tuesdays With Morrie, I would like to find out what the cause of this disease is, and among other things, what research has been done to help prevent the disease. The disease is transmitted through genetics, and one clinic says that through extensive research, they were able to conclude a few things about ALS; “In ALS, the nerve cells that control the movement of your muscles gradually die, so your muscles progressively weaken and begin to waste away. ALS is inherited in 5 to 10 percent of cases. The other cases appear to occur randomly” (Mayo Clinic). The mutation that causes this disease is found on the sixteenth chromosome, branching off of its short arm. While about ninety percent of ALS cases are random, the other ten percent do make ALS a genetic disease, because it can be inherited. The mutations from genetic and non-inherited ALS are almost identical to each other when examined. Some people who inherit the mutation never exhibit symptoms of ALS, and do not die from the disease, but live their lives fully. Once symptoms start showing for Lou Gehrig’s disease, and once the patient tests positive for it, they do not have very long before it starts to change their lives. Perfectly healthy people could go from being lively and moving all the time, to bed-ridden and having to be fed every meal. It’s a terrible disease that forces the host watch themselves die slowly. The simplest tasks that we take for gran... ... middle of paper ... ...2014, January 22). Amyotrophic lateral sclerosis. Retrieved January 25, 2014, from Genetics Home Reference website: http://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis • The ALS Association. (2011, February). Who Gets ALS? Retrieved January 25, 2014, from ALS Association website: http://www.alsa.org/about-als/who-gets-als.html • Albom, M. (1997). Tuesdays with Morrie. New York, NY: Doubleday Dell Publishing Group, Inc. • Jasmin, L. (Ed.). (2012, August 26). Amyotrophic Lateral Sclerosis. Retrieved January 25, 2014, from The New York Times website: http://www.nytimes.com/health/guides/disease/amyotrophic-lateral-sclerosis/overview.html • UCSF Memory and Aging Center. (2011, September 21). Single Gene Implicated in FTD/ALS. Retrieved January 25, 2014, from Musings on Memory and Aging website: http://memory.ucsf.edu/blog/single-gene-implicated-in-ftdals-354/
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
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].
There is no cure for ALS at this time and treatment is focused on management of the symptoms, involving a combination of physical therapy, occupational therapy, and speech, respiratory, and nutritional therapies. Moderate exercise may help maintain muscle strength and function. Drugs can also treat excessive saliva and drooling, and speech therapy can help compensate for loss of muscular control of the mouth. As the disease progresses and muscular degeneration spreads throughout the body, various devices may provide support, such as ankle braces, neck collars, reclining chairs, wheelchairs, and hospital beds. Respiratory support and feeding tubes are required when the person loses cont...
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
...ernatively, loss of VAPB functions in VAPB mutations linked to ALS has been suggested by a resent genetic study using zebra fish and mice models. Thus, knockdown of VAPB in zebra fish was causative to swimming deficits and knockout of VAPB in mice led mild motor deficits (Kabashi et al., 2013). Presumably, arising number of different positional mutations at VAPB linked to sporadic ALS might indicate susceptibility of neuronal weakness increased in losing of its native function (Ingre et al., 2013).
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).
According to www.medterms.com , ALS is defined as “a classic motor neuron disease. Motor neuron diseases are progressive chronic diseases of the nerves that come from the spinal cord responsible for supplying electrical stimulation to the muscles. This stimulation is necessary for the movement of body parts.” “1 out of 10 cases are a genetic defect” (Amyotrophic lateral sclerosis- National Library of Medicine, 2012). The other nine times, the cause of cannot be determined.
Chen, S., Sayana, P., Zhang, X., Le, W. (2013). Genetics of amyotrophic lateral sclerosis: and update. Molecular Neurodegeneration 8, 1-15
Amyotrophic Lateral Sclerosis (ALS) is a disease that affects the nerve cells in the brain and spinal cord, specifically the motor neurons. Motor neurons carry signals from the brain and spinal cord to all of the muscles in your body. When a person has ALS, they are not able to generate enough motor neurons, and the brain cannot then initiate and control muscle movement. After some time, when the disease gets progressively worse, the patient has difficulty speaking, swallowing, breathing, etc. These kinds of tasks are essential to the body, so when it gets to a certain point, the patient dies. There are several other names for this disease, such as Lou Gehrig’s disease, and Motor Neurone Disease (MND).
Amyotrophic Lateral Sclerosis is a motor neuron type disease. The disease was first discovered in 1869 by French neurologist Jean-Martin Charcot. Though we have known of this disease and its capabilities for well over a century; there is still information that is unclear. This past decade has been successful for research, giving us new information and optimism for years ahead. New hope is arriving in thoughts that stem cell research and gene therapy will advance our knowledge for a possible cure.
Chamberlin, Stacey L., and Brigham Narins. The Gale Encyclopedia of Neurological Disorders. Detroit: Thomson Gale, 2005. Print.
…progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. The progressive degeneration of the motor neurons in ALS eventually leads to [the patients] death (Alsa.org, 2014).
Amyotrophic lateral sclerosis, or ALS, is a degenerative disease affecting the human nervous system. It is a deadly disease that cripples and kills its victims due to a breakdown in the body’s motor neurons. Motor neurons are nerve cells in the brainstem and spinal cord that control muscle contractions. In ALS, these neurons deteriorate to a point that all movement, including breathing, halts. Muscle weakness first develops in the muscles of body parts distant from the brain, such as the hands, and subsequently spreads through other muscle groups closer to the brain. Such early symptoms as this, however, can hardly be noticed.
Amyotrophic lateral sclerosis (ASL), Lou Gehrig’s disease, a brutal, unforgiving illness of the neurological system with no known cure.
This is a neurodegenerative disease, meaning it results in progressive loss or death of neurons. It often starts off with effecting simple motor skills like writing and holding things, after a few months usually patients start losing the ability to walk, talk, or move any of their limbs. Although the brain trauma is what causes it, ALS has little-no-effect on the brain. This fatal disease is typically diagnosed around age 60 and most patients are given about 3-5 years to live after being diagnosed. It has been found that 10% of cases are shown as genetic. It was brought to attention that athletes were beginning to get diagnosed with ALS at a younger age than most. After extensive research in the early 2000’s, Brain Analyst, Dr. Mckee ran tests and finally came to the conclusion that the toxic proteins in the brains of ALS patients were coming from repeated blows to the head. It was then made evident why so many athletes in contact sports such as football, soccer, boxing, etc… were being diagnosed at such a young age and more frequently than