November 30, 2016
Medical Terminology K12
Amyotrophic Lateral Sclerosis (ALS)
ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. More specifically, it causes dysfunction of the nerves that control muscle movement. A-myo-trophic comes from the Greek language. “A” means no or not present. “Myo” refers to muscle, and “Trophic” means nourishment, so literally, amyotrophic means no muscle nourishment. When a muscle doesn’t receive any nourishment, it “atrophies”, or wastes away and stops working. “Lateral” refers to the areas in a person’s spinal cord where portions of the nerve cells that control muscles are located. As this area degenerates because of the lack of nourishment, it leads to “sclerosis”, which is scarring or hardening in the region. In the late stages of ALS, the condition affects nerves that control breathing and other vital bodily functions, resulting in death. ALS is the most common type of motor neuron disease in the US. ALS is sometimes also referred to as Lou Gehrig’s disease, after the famous baseball player who had the condition. The disease was first discovered in 1869 by French neurologist Jean-Martin Charcot, and first written about in 1874, but it was the impact on Gehrig’s career that truly brought ALS into public awareness in 1939.
According to the ALS Association, about 6,400 people are diagnosed with the condition every year in the US, with an estimated 20,000 living with ALS at any one moment. In a regular, well functioning body, motor neurons travel from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their complete dysfunction and death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action severely affected, people with this horrible disease may lose the ability to speak, eat, move and breathe. The motor nerves that are affected when you have ALS are the motor neurons that provide voluntary movements and muscle control. Examples of voluntary movements are making the effort to reach for an object in a table or to go up the stairs. The muscles in the arms and legs mostly control these actions.
There are two different types of ALS, sporadic and familial. Sporadic ALS, which is the most common form of the disease in the United States, makes up for 90-95% of all ALS cases. It may affect anyone, anywhere, and doesn’t have a genetic pre-disposition. French neurologist Jean-Martin Charcot discovered familial ALS, also known as FALS, in 1869. FALS accounts for 5-10% of the cases in the U.S. Familial ALS means the disease is inherited, and a genetic pre-disposition exists. In those families containing the gene, there is a 50% chance each offspring will inherit the gene mutation and develop the disease in the future.
ALS usually strikes people between the ages of 40 and 70, and approximately 20,000 Americans can have the disease at any given time. For reasons still unknown to doctors and scientists, military veterans are approximately twice as likely to be diagnosed with the disease than the general public. Notable individuals who have been diagnosed with ALS include baseball player Lou Gehrig, theoretical physicist, cosmologist, and author Stephen Hawking, Hall of Fame pitcher Jim “Catfish” Hunter, Toto bassist Mike Porcaro, Senator Jacob Javits, actor David Niven, “Sesame Street” creator Jon Stone, boxing champion Ezzard Charles, NBA Hall of Fame basketball player George Yardley, former vice president of the United States Henry A. Wallace, U.S. Army General Maxwell Taylor, and NFL football players Steve Gleason, O.J. Brigance and Tim Shaw.
The symptoms of ALS develop at different rates for different people. In the early stages of ALS, signs and symptoms can be so small that they may be overlooked, at least until they develop into more obvious weaknesses or visible atrophy (muscle degeneration). Common symptoms of ALS include difficulty in carrying out daily activities including walking, increased clumsiness, weakness in the feet, hands, legs and ankles, cramping and twitching in the arms, shoulders or tongue, difficulty in maintaining good posture and holding head upright, uncontrolled outbursts of laughter or crying, cognitive changes, slurring of speech and difficulty with voice projection, pain, fatigue, saliva and mucus problems, difficulties with breathing and swallowing (in advanced cases). Progressive muscle weakness occurs in all cases of ALS, although muscle weakness may not be the first indication of the condition. Early symptoms often include clumsiness, abnormal limb fatigue, muscle cramps and twitches and slurred speech. Symptoms will spread to all parts of the body as ALS progresses. Some people with ALS can also experience symptoms of impaired decision-making and memory, eventually leading to a form of dementia. Emotional liability is also a symptom of ALS in some people – this is known as the pseudo-bulbar effect and can cause people to have extreme fluctuations in mood and emotional response.
As for diagnosis, there is no single test used to diagnose ALS. Instead, a doctor or medical specialist will make a diagnosis based on the patient’s symptoms and results of tests used to rule out other conditions that can cause similar symptoms. Also, MRI scans can be used to locate problems such as herniated disks that cause symptoms similar to ALS. Two types of tests that may be used to diagnose ALS are called electromyography (EMG) and nerve conduction study (NCS). These tests can detect electrical energy in muscles and the ability of nerves to send signals. EMG and NCS can be used to support ALS diagnosis and to rule out peripheral neuropathy (peripheral nerve damage) and myopathy (muscle disease). Magnetic resonance imaging (MRI) does not reveal evidence of ALS, but can be used to show other problems that could be causing the patient’s symptoms. These problems include spinal cord tumors and herniated disks in the neck. Doctors can also request that blood and urine tests are carried out, as well as tests on spinal fluid samples extracted through a lumbar puncture. A muscle biopsy may also be carried out in order to rule out myopathy. As well as the conditions mentioned above, the following medical problems can also produce similar symptoms to ALS, and thus may need to be ruled out during the diagnostic process: Human immunodeficiency virus (HIV), Lyme disease, multiple sclerosis, Polio, and West Nile virus. The presence of both upper and lower motor neuron symptoms is believed to be a strong indicator of ALS. Upper motor neuron symptoms include stiffness and resistance to movement in the muscles, and brisk reflexes. Lower motor neuron symptoms include weakness, muscle atrophy and twitching.
There is no currently no cure for ALS, so treatment for the disease focuses on alleviating the effects of the symptoms, preventing the development of unnecessary complications and, potentially, slowing down the rate at which the disease progresses. As the effects of ALS can cause a range of physical, mental and social changes for patients, it is often beneficial for patients to work with a team of doctors to help them manage their symptoms and care. In recent years, scientists have made significant progress in learning more about this disease. There is currently one FDA approved drug, Riluzole, that slows the progression of ALS in some people. In some people, it slows the progression of the disease and may work by reducing the body’s levels of glutamate, an excitotoxin that has been linked to neuronal damage. Doctors can also prescribe medication to treat many of the symptoms of ALS.
There are many types of therapy that can help patients deal with the emotional and physical pain of their disease. First of all, physical therapy can help people with ALS to manage pain and address mobility issues. Low-impact exercises can improve cardiovascular fitness and a patient’s sense of well-being. Physical therapists can also help patients adapt to using mobility aids such as walkers and wheelchairs and make suggestions with regards to devices, such as ramps, that can make getting about easier. Occupational therapy can help people with ALS maintain their independence for longer. Occupational therapists can suggest adaptive equipment and assistive technologies to enable people to continue their daily routines. Therapists can also train people to compensate for hand and arm weaknesses.
Breathing therapy may be required as the disease progresses and the respiratory muscles get weaker. Doctors can provide devices to assist breathing at night, and mechanical ventilation is also an option. In mechanical ventilation, a tube connected to a respirator is inserted in a surgically created hole in the neck into the windpipe. Additionally, speech therapy is also useful when ALS begins to affect the muscles involved in speech. Speech therapists can teach adaptive techniques when speech becomes difficult. Other methods of communication such as writing can be discussed, as can computer-based communications equipment. Nutritional support is important for people suffering for ALS as the disease can compromise food intake by causing difficulties swallowing. Nutritionists can advise patients and caregivers on how to prepare meals that are easier to swallow while meeting all of the individual’s nutritional needs. Suction devices and feeding tubes can also be employed to help people who are able to ingest food orally.
A few years ago, the ALS Association attempted to raise awareness of ALS through the ice bucket challenge: a social media campaign that spread across the world using the hashtags #icebucketchallenge, #alsicebucketchallenge, and #strikeoutals. For fundraising, people are challenged to drench themselves in water using a bucket filled with ice and water, and then go donate money to charities supporting ALS. After performing the challenge, the individual is then able to nominate further people to take the challenge. The ice bucket challenge proved to be extremely popular, with a whole host of high-profile personalities ranging from Bill Gates to Lady Gaga taking part. By August 25th, 2014, donations to the ALS Association from the ice bucket challenge reached $79.7 million. In comparison, during the same timeframe in 2013, charity only received $2.5 million in donations. This number was a very good number for researchers attempting to understand the causes of this disease. The money donated was used to find effective treatments for this currently fatal condition. During a six-week period (August through mid-September 2014) The ALS Association received $115 million in donations due to the ice bucket challenge. Forbes puts the total donations at over $220 million, some $47.5 million of which has already been allocated to fund research, according to the ALS Association website.
Additionally, the ice bucket challenge brought in more than $17 million to ALS Canada, compared to less than $7 million raised in 2013. This money has already been allocated to support families already coping with ALS, as well as to fund a variety of research projects that would otherwise be unlikely to receive funding. In fact, $100,000 grants have been given to five different research teams across four Canadian universities to help them investigate innovative hypotheses not currently being investigated anywhere else.