Amyotrophic Lateral Sclerosis (als)

Abstract:

ALS is a disease in which the causes are unknown and the effects are devastating. Along with great physiological damage there is great mental damage that a patient that had ALS must endure. A disease with a great influence in today's life and the life of those in the past. There is no cure for ALS only treatments. Treatments that treat the symptoms and not the disease.

ALS is a disease that has impacted today's society of individuals in a dramatic and influential way. Not necessarily in a good way, but never the less influential. Throughout recent history the disease has cause heartbreak and hardship, and also a new era of research and paranoia. "Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive neuromuscular disease." This is how ALS is defined by the Robert Packard Center for ALS Research at John's Hopkins University (The Robert Packard Center for ALS Research at Johns Hopkins 2005). Through devastating physiological and psychological effects, this disease has raised awareness and an effort to alleviate the effects previously mentioned. In this paper, I hope to raise awareness to the reader about the history of this disease, the causes and treatments, and also the many effects this disease actually entails.

Amyotrophic lateral sclerosis is a disease that is characterized by the slow degeneration of motor neurons, which leads to the weakening of the respiratory system, and eventually death. Its first clinical description was made in 1860, in Europe by the French neurologist Jean Martin Charcot (Clem 2004). ALS received its medical name in 1874 from Charcot. Charcot had observed the wasting away of a patient's muscles (known medically as amyotrophy) and the scarring and hardening, or sclerosis, of the bundles of motor neurons running down each side (laterally) through the spinal cord ("Amyotrophic Lateral Sclerosis" 2004). This is why the disease is named for him in Europe, however in the United States, the disease is most commonly known for the legendary baseball player Lou Gehrig, who died from the disease in 1941. In the United States, approximately 5 in every 100,000 people contract the disease, generally in people 40 to 60 years old. Also the disease is more prevalent in men at a 1.6 to 1 ratio (The Robert Packard Center for ALS Research at Johns Hopkins 2005).

A specific cause is not known for ALS, the only risk factor related to the disease is having a family member affected with the hereditary form of the disease (Campellone 2005). Even though a specific cause is not known, many factors have been considered to cause the disease. Seemingly, the most widely accepted theory is that mutated SOD1 plays an active role in the neurodegenerative process (Ripps 1995). According to Ayako Okado-Masumoto and his study entitled "Amyotrophic Lateral Sclerosis: A proposed mechanism", there are as many as 90 different mutations in Cu, Zn-superoxide dimutase (SOD1) that are related to cases of ALS, both in familial (FALS) and sporadic (SALS) forms. Because SOD1 is found in the intermembrane space of the mitochondria and mitochondrial swelling and vacuolization are signs of motor neuron death, it was theorized by Okado-Masumoto that the uptake of this mutated SOD1 caused the motor neuron death (Okado-Matsumoto 2002). ALS progresses inexorably, eventually effecting bulbar neurons and cranial never motor nuclei. Because of this patients that are near the final stages of this disease often need substantial medical care to live. Studies have also indicated that normal levels of SOD activity in mouse tissues indicate that the disorder does not result from a decrease of activity and represent a dominant mutation (Ripps 1995).

The physiological effects of ALS are devastating. The disease occurs when disorganized neurofilaments block the axonal transport of crucial materials along the microtubular highways, this chokes off the vital supply needed by the cell body of the neuron to the terminal of the axon (Sherwood 2004). Degeneration is a result of an excess of glutamate in the nervous system. It is uncertain why excess glutamate is produced or if the transporters that ensure the glutamate levels adequate are faulty or if the glutamate receptors are defective. Either way, excess glutamate is toxic to nerve cells and causes death in cells. As the motor neurons dies, it is unable to transmit the action potentials for muscle movement. Because this happens, the muscle is not used and becomes weak and begins to waste away (atrophy) and becomes paralyzed. This only occurs in the motor neurons of voluntary muscles. "Voluntary muscles are all those that we control with our thought process such as limb movement, swallowing and breathing. (Breathing is not automatic as you can hold your breath and hence control your diaphragm muscles.)