Overview
ALS, short for amyotrophic lateral sclerosis, is a disease of the parts of the nervous system that control voluntary muscle movement. ALS is one of the most common neuromuscular diseases worldwide, and people of all races and ethnicities can get it. However, ALS is not contagious and cannot be transmitted from one person to another. Nerve cells that control muscle cells, called motor neurons, are gradually lost during ALS. As the motor neurons are lost, the muscles they belong to become weak and nonfunctional, leading to a loss of physical function. Most people with ALS die from respiratory failure within 3 to 5 years from the start of their symptoms, but longevity is increasing because of changes in supportive care and technology.
History
The history of ALS goes back to 1869. Jean-Martin Charcot, an acclaimed French neurologist, noted the first reports of the characteristics of ALS in 1869. He has been called “the Father of Neurology”, and explained how the central nervous system works. Charcot concluded that ALS weakens skeletal muscles, but is usually considered painless. It is now proven that pain is rare in ALS at any stage. He also found that many patients with ALS have muscle spasms, cramps, and atrophy. Since ALS is a progressive condition, most with it will suffer from all of the symptoms. In 1991, a team of ALSA researchers linked familial ALS to chromosome 21. These researchers also found that there were structural defects in the SOD1 (superoxide dismutase) gene on chromosome 21. Many famous people in US history have had ALS, including Lou Gehrig, Ezzard Charles, Catfish Hunter, Senator Jacob Javits, David Niven, Dimitri Shostakovitch, Charles Mingus, and Stephen Hawking.
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Biology
Family members of those who are diagnosed with ALS are not considered to be at increased risk for developing it. Sporadic ALS occurs randomly with no clearly associated risk factors in 90 to 95 percent of all ALS cases, which means only 5 to 10 percent are familial. Mutations in more than a dozen genes have been found to cause familial ALS. 20 percent of familial cases result from mutations in the gene that encodes SOD1. About one-third of all familial cases result from a defect in a gene known as “chromosome 9 open reading frame 72," or C9orf72.
Familial ALS is most often autosomal dominant. This means a parent who has a mutation that causes ALS has a 50% chance of passing that mutation to each of his or her children. Both men and women are equally likely to inherit the genetic mutation.
Familial ALS is most often autosomal dominant. This means a parent who has a mutation that causes ALS has a 50% chance of passing that mutation to each of his or her children. Both men and women are equally likely to inherit the genetic mutation.
Causes
Scientists do not know what causes sporadic ALS, but they think the development has to do with the interaction of genetics and environment. Researchers are studying several possible causes of ALS, including gene mutation chemical imbalance, disorganized immune response, and protein mishandling. Some evidence suggests that ALS may be triggered by exposure to heavy metals, animal hides, or fertilizers. Other theories link ALS to a phenomenon called toxicity, in which the nerve cells that control movement are overstimulated by a neurotransmitter called glutamate to the point where they eventually die. Viral infection and severe physical trauma have been implicated as possible contributors to ALS.
Symptoms
ALS makes muscles become weak and soft, or stiff, tight, and spastic. Muscle twitches and cramps commonly occur because the long fibers from nerve cells become irritable. Symptoms become more widespread as ALS progresses. Eventually, individuals will not be able to stand or walk, get in or out of bed on their own, or use their hands and arms. In the late stages of the disease, most people will need help getting to and from the bathroom. They will also lose the ability to breathe on their own and must depend on ventilatory support for survival. ALS eventually results in total paralysis. However, bladder control, senses, and thinking ability are unaffected by ALS.
Diagnosis
There are a few factors when it comes to diagnosing ALS. According to a report on data from the National ALS Registry, 3.9 per 100,000 people in the US get ALS. An estimated 5,600 people in the United States are diagnosed with the disease each year, and as many as 30,000 people in the U.S. currently have a definite diagnosis of ALS. ALS is more common among white males, non-Hispanics, and people aged 60–69 years.
Treatment
There is no way to prevent ALS as of now. However, it is still very possible to remain involved with your family and friends. Medical inventions and technology assisting with breathing, nutrition, mobility, and communication have greatly improved the quality of life for people with ALS. Riluzole, and FDA-approved drug, has also been shown to slightly increase the lifespan for people with ALS.
Works Cited
“ALS Overview.” Muscular Dystrophy Association. Muscular
Dystrophy Association, 2014. Web. 7 Nov. 2014.
<http://mda.org/disease/amyotrophic-lateral-sclerosis/overview>.
“Amyotrophic Lateral Sclerosis.” Mayo Clinic. Mayo Foundation for Medical Education and Research, 9 Apr. 2014. Web. 7 Nov. 2014. <http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/definition/con-20024397>.
“Amyotrophic Lateral Sclerosis (ALS).” Health A-to-Z. Harvard Health Publications Group, 2007. Health Reference Center Academic. Web. 7 Nov. 2014.
“Amyotrophic Lateral Sclerosis (ALS) Fact Sheet.” National Institue of Nuerological Disorders and Stroke. National Institue of Nuerological Disorders and Stroke, June 2013. Web. 7 Nov. 2014. <http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_als.htm>.
“Amyotrophic Lateral Sclerosis (ALS or ‘Lou Gehrig’s Disease’).” MedicineNet. MedicineNet, 2014. Web. 7 Nov. 2014. <http://www.medicinenet.com/amyotrophic_lateral_sclerosis/article.htm>.
“Facts About Amyotrophic Lateral Sclerosis (ALS).” Pamphlet by: Muscular Dystrophy Association. Muscular Dystrophy Association, Inc., 2000. 1. Nursing and Allied Health Collection. Web. 7 Nov. 2014.
Gulli, Laith Farid, and Brian Veillette. “Amyotrophic Lateral Sclerosis.” The Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. 2nd ed. Vol. 1. Detroit: Gale, 2005. 83-87. Opposing Viewpoints In Context. Web. 7 Nov. 2014.
“History of ALS.” Scope, Sequence, and Coordination. National Science Teachers Association, 2014. Web. 17 Nov. 2014. <http://dev.nsta.org/evwebs/2150/history.htm>.
“Understanding ALS -- the Basics.” WebMD. WebMD, 2014. Web. 7 Nov. 2014. <http://www.webmd.com/brain/understanding-als-basics>.
"What Is ALS?" ALS Association. ALS Association, 2010. Web. 7 Nov. 2014. <http://www.alsa.org/about-als/what-is-als.html>.
“Amyotrophic Lateral Sclerosis.” Mayo Clinic. Mayo Foundation for Medical Education and Research, 9 Apr. 2014. Web. 7 Nov. 2014. <http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/definition/con-20024397>.
“Amyotrophic Lateral Sclerosis (ALS).” Health A-to-Z. Harvard Health Publications Group, 2007. Health Reference Center Academic. Web. 7 Nov. 2014.
“Amyotrophic Lateral Sclerosis (ALS) Fact Sheet.” National Institue of Nuerological Disorders and Stroke. National Institue of Nuerological Disorders and Stroke, June 2013. Web. 7 Nov. 2014. <http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_als.htm>.
“Amyotrophic Lateral Sclerosis (ALS or ‘Lou Gehrig’s Disease’).” MedicineNet. MedicineNet, 2014. Web. 7 Nov. 2014. <http://www.medicinenet.com/amyotrophic_lateral_sclerosis/article.htm>.
“Facts About Amyotrophic Lateral Sclerosis (ALS).” Pamphlet by: Muscular Dystrophy Association. Muscular Dystrophy Association, Inc., 2000. 1. Nursing and Allied Health Collection. Web. 7 Nov. 2014.
Gulli, Laith Farid, and Brian Veillette. “Amyotrophic Lateral Sclerosis.” The Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. 2nd ed. Vol. 1. Detroit: Gale, 2005. 83-87. Opposing Viewpoints In Context. Web. 7 Nov. 2014.
“History of ALS.” Scope, Sequence, and Coordination. National Science Teachers Association, 2014. Web. 17 Nov. 2014. <http://dev.nsta.org/evwebs/2150/history.htm>.
“Understanding ALS -- the Basics.” WebMD. WebMD, 2014. Web. 7 Nov. 2014. <http://www.webmd.com/brain/understanding-als-basics>.
"What Is ALS?" ALS Association. ALS Association, 2010. Web. 7 Nov. 2014. <http://www.alsa.org/about-als/what-is-als.html>.