Amyotrophic Lateral Sclerosis (ALS) has two distinct cases, familial ALS and Sporadic ALS. If a person is diagnosed with familial ALS, it means that another family member already has ALS or a similar disease, such as frontotemporal dementia (FTD). There are roughly 5 to 10% of cases that are caused by known genetic mutations. In cases concerning familial ALS (FALS), it is known to be caused by genes, although the gene may not be identifiable in all forms of the disease. Most ALS cases are considered “sporadic.” This means that the disease has no known cause. In such cases of ALS, the affecting genes are unidentifiable, it turn they have no explainable cause.
There are cases within ALS, where the disease is caused by a defective gene, but no other member in the family is affected by ALS. In such special cases, the person can be diagnosed with sporadic ALS, although the disease’s cause in genetic. There are a multitude of genes that are known to cause ALS. Scientists are fascinated with the fact that an apparent sporadic case of ALS, may be caused by a known genetic mutation. It is certain that as new ALS-causing genes are discovered, there will be many sporadic cases of ALS that will be able to attribute to genetics.
A mutation is a change within a series of nucleotides. The results of mutations vary due to the facts that different mutations can cause different mutations. Having a genetic mutation would result in a cell producing little protein or voluminous amounts of
I. Take a moment, and point at the computer screen. Notice that your index finger is extended and your other fingers are curled into your palm. How did your hand know to do that? It all began in your brain, the starting point for an important chain of communication. Your brain ordered nerve cells, to activate
Have you ever heard of ALS, better known as Lou Gehrig’s disease? For many people, ALS is a disorder that they may not know much about. I never heard of it either until my father was diagnosed with this disease in 2006. Because there is no known cure, it is important to detect this disease early, so that proper treatments and preparation can be done before it’s too late.
ALS (Amyotrophic Lateral Sclerosis) or Lou Gehrig’s Disease is a classified as a degenerative neurological disorder that inhibits motor neurons in the spinal cord and brain to function properly. This disease eventually results in paralysis and imminent death over a period of time. ALS patients have anywhere from a few months, to a couple years to live after diagnosis since their nervous systems are slowly destroyed, rendering the body useless, and sustaining life impossible.
People first need to know what ALS is. ALS is very difficult to diagnose. So far there is no
Amyotrophic lateral sclerosis also known as ALS or Lou Gehrig’s disease, is a genetic disorder that has proven
However, there are two types of ALS, which are Sporadic ALS and Familial ALS. Sporadic ALS can happen to anyone and makes up most of 90% to 95% of cases, while Familial ALS is inherited and that's about 5% to 10% of cases. Some ailments related to the disease are Primary Lateral Sclerosis (PLS), Progressive Bulbar Palsy (PBP), and Werdnig-Hoffman disease. PLS is a slightly less severe form of ALS, but it does affect the upper body. PBP is a muscle weakness of the body, however, the lower body is affected. Werdnig-Hoffman is a spinal cord disease that affects both children and infants. For all three types, there is no treatment or cure that will slow down the progression. In support of the patients with ALS, multiple support groups have been made, and in addition, patients will donate their brain to science to further the research in finding a cure. In result, ALS isn't the only disease that poses a big issue in sports, CTE also has a notable impact.
“A-myo-trophic comes from the Greek language ‘A’ meaning no or negative. ‘Myo’ refers to muscle, and “Trophic” means nourishment-’No muscle nourishment’... ‘Lateral’ identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located.” (“What is ALS?”). Literally, Amyotrophic lateral sclerosis means no muscle nourishment in the spine. In this disease, nerve cells in both the brain and spinal cord slowly die over a period of time. The cells, referred to as motor neurons, control the muscles throughout the body, resulting in death or paralyzation as they degenerate. At any given time, ALS can strike anyone. It is not contagious, however, in about 10% of cases, ALS runs in the family making it somewhat hereditary (“What is amyotrophic lateral sclerosis?”). “The incidence of ALS is two per 100,000 people” (“Facts You Should Know). Most of the time, Lou Gehrig’s disease (ALS), acts on middle-aged and older adults, however there have been noted cases of patients much younger. Considering that a friend or family member can be diagnosed with this horrible disease, everyone should pitch into ALS charities in hope to find a
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. ALS causes muscle weakness and impacts physical functions this occurs in the nervous system. In the nervous system motor neurons of the body are being affected. Usually, ALS causes weakness and paralysis in the muscles. The muscles slowly waste away and a person’s legs and arms become much weaker. In some cases there may be muscle spasms, weight loss, and difficulty in breathing, eating, and swallowing. The mind does not get affected and there is no loss of sensation, or sense of touch during ALS. The average for a person with ALS is about two to five years from the time diagnosis. In some cases people can live with the disease for five years and more. ALS is mostly being develop between the ages of 40 and 70. Athletes usually get diagnosed between 30 and 34. It shows that athletes have had multiple head trauma and they also have abnormal
The National Institute of Neurological Disorders and Stroke have identified over 12 genetic mutations as the cause in some familial cases of ALS. The research on ALS is continually resulting in new factors that may be the cause of ALS, including environmental factors and even possibly a “genetic predisposition”. (www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm) Personally speaking, when I told my mom about the ALS Ice Bucket Challenge, she told me that ALS was what my great grandma had died from. I had known that my great grandma had died from some disease, but I didn’t know that it was ALS. Unfortunately for my great grandma and the others suffering from ALS, there has not been a cure found yet for ALS. There is one FDA approved drug for ALS called riluzole (Rilutek). Riluzole helps to reduce the damage to the nerves that are being attacked by the disease. While Riluzole can’t reverse the damage that has already been done to the nerves and muscles, it can extend the amount of time before the person needs respiratory support and help with difficulty
Some things that can cause ALS is a genetic mutation in the SOD1 gene when a baby is born. It can also develop over time. There is no known cure but some things that can help are medication and physical therapy. In most cases, patients die within 2-5 years of being diagnosed.
ALS stands for Amyotrophic Lateral Sclerosis, and is also referred to as Lou Gehrig’s disease. After this disease is contracted, it weakens skeletal muscles and the body is eventually paralyzed. In some cases, ALS affects the limbs first, causing difficulty to move. Due to being a progressive condition, patients will suffer from many different symptoms as time goes by. After being diagnosed, only about fifty percent of patients live for at least two more years (Facts You Should Know 2010). Moreover, about twenty percent live five years after being diagnosed and only ten percent of people can expect to live for over ten years after the diagnosis (NINDS 2013). This being said, ALS is typically very rare. Approximately two out of one hundred
Amyotrophic Later Sclerosis (ALS) is a progressive disease that occurs in the nerve cells which controls muscle movement. Over time it takes over the rest of the patient’s body until finally the heart gives up. Motor neurons make this disease progress. They reach from the brain to the spinal cord to the muscles throughout the rest of the body. Degeneration of the motor neurons is the cause of death in patients. The death of motor neurons leads to the brain not being able to control muscle movement. ALS is mainly a sporadic disease but 10% of cases are familial. Since the cause is still unknown it is hard to tell where people actually contract the disease from. Some theories about the cause of ALS is, some patients have had a head injury in
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurological disorder that destroy nerve cells causing death of motor neuron cells in the brain and spinal cord controlling voluntary muscle movements. It is considered a rare disease as only two out of 100,000 in a general population can develop it and there are approximately 20,000 to 30,000 cases in the United States (Miller et al 2004). It has also been shown that the disease affect men more than it does women with a ratio of three to two (Kiernan et al 2011).
Among the traits what have been identified, one can mention the reduce of the functional connection of the brain parts in the patients having ALS. Furthermore, the methodology of the advanced spinal cord MRI allowed finding the connection between the changes of the cord structure and ALS. An additional number of cases with ALS pathology were explored to have a group of genetic mutations. The following features have been investigated with the method of genetic imaging. This method boosted the detection of ALS at very early stages finding the genetic pathology.
A distinctive characteristic of ALS is that although the motor neurons die, the brain, cognitive functions and sensory neurons stay intact (Porth & Matfin, 2009). This makes the disease especially devastating because patients become trapped inside their dying body, with a fully alert mind, but are unable to move. It is not known what causes the exact death of the motor neurons in the body, but “five percent to 10% of cases are familial; the others are believed to be sporadic” (Porth & Matfin, 2009, p.