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AMYOTROPHIC LATERAL SCLEROSIS Amyotrophic Lateral Sclerosis ALS also known as Motor Neuron Disease MND Mal Charcot or Lou Gehrigs Disease is a life threatening neurodegenerative disease ALS causes the progressive loss of nervous system control of voluntary muscle systems by breaking down of motor neurons in the nerve cells in the brain and spinal core It affects one in every 100000 people more men than woman and symptoms dont usually develop until sufferers are in their fifties The symptoms of ALS include muscle weakness decrease in muscle coordination and mass loss of tissue due to a lack of nervous stimulation possible paralysis muscle cramps voice impairment like hoarseness slow or abnormal speech difficulty swallowing and breathing urinary urgency leg ankle and feet swelling Additionally the nerves controlling muscles in which use is lost shrink and disappear This disease has a gradual onset that progressively worsens until death which usually occurs within three to five years There are three types of ALS In some cases it is known that people inherit ALS but often there are sporadic or non-inherited cases too The third kind is Guamanian because there are so many cases in Guam Nearly 30000 people currently have the disease and 95 percent of them are thought to have the sporadic form Recently they have identified genetic mutations that appear to cause more than half or these cases The newly identified mutations involve a protein called EAAT2 where some of the useless introns that are supposed to be cut out of the DNA are kept while exons are discarded This produces defective RNA that leads to a defective EAAT2 protein or no protein at all EAAT2 normally deactivates and recycles glutamate a chemical certain nerve cells use to send messages to each other Johns Hopkins researchers have previously shown that many ALS patients have little or no EAAT2 in certain areas of the brain and spinal cord creating an excess
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