Which information would the nurse discuss with the client before an electromyogram is performed?
Amyotrophic lateral sclerosis (ALS) is a rare neurological disease that primarily affects the nerve cells (neurons) responsible for controlling voluntary muscle movement (those muscles we choose to move). Voluntary muscles produce movements like chewing, walking, and talking. The disease is
progressive, meaning the symptoms get worse over time. Currently, there is no cure for ALS and no effective treatment to halt or reverse the progression of the disease. ALS belongs to a wider group of disorders known as motor neuron diseases, which are caused by gradual deterioration (degeneration) and death of motor neurons. Motor neurons are nerve cells that extend from the brain to the spinal cord and to muscles throughout the body. As motor neurons degenerate, they stop sending
messages to the muscles and the muscles gradually weaken, start to twitch, and waste away (atrophy). Eventually, the brain loses its ability to initiate and control voluntary movements. Early symptoms of ALS usually include muscle weakness or stiffness. Gradually all voluntary muscles are affected, and individuals lose their strength and the ability to speak, eat, move, and even breathe. Most people with ALS die from respiratory failure, usually within 3 to 5 years from when the symptoms
first appear. However, about 10 percent of people with ALS survive for 10 or more years. ALS was once commonly known as Lou Gehrig’s disease, following the retirement of the famous ballplayer in the 1940s due to the disease. top The onset of ALS can be so subtle that the symptoms are overlooked but gradually these symptoms develop
into more obvious weakness or atrophy. Early symptoms include: The first sign of ALS usually appears in the hand or arm and can show as difficulty with simple tasks such as buttoning a
shirt, writing, or turning a key in a lock. In other cases, symptoms initially affect one leg. People experience awkwardness when walking or running, or they may trip or stumble more often. When symptoms begin in the arms or legs, it is referred to as “limb onset” ALS, and when individuals first notice speech or swallowing problems, it is termed “bulbar onset” ALS. As the disease progresses, muscle weakness and atrophy spread to other parts of the body. Individuals may
develop problems with moving, swallowing (called dysphagia), speaking or forming words (dysarthria), and breathing (dyspnea). Although the sequence of emerging symptoms and the rate of disease progression can vary from person to person, 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. Individuals with ALS usually have difficulty swallowing and chewing food, which
makes it hard to eat. They also burn calories at a faster rate than most people without ALS. Due to these factors, people with ALS tend to lose weight rapidly and can become malnourished. Because people with ALS usually can perform higher mental processes such as reasoning, remembering, understanding, and problem solving, they are aware of their progressive loss of function and may become anxious and depressed. A small percentage of individuals may experience problems with language or
decision-making, and there is growing evidence that some may even develop a form of dementia over time. Individuals with ALS eventually lose the ability to breathe on their own and must depend on a ventilator. Affected individuals also face an increased risk of pneumonia during later stages of the disease. Besides muscle cramps that may cause discomfort, some individuals with ALS may develop painful neuropathy (nerve disease or damage). top ALS is a common neuromuscular disease worldwide. It affects people of all races and ethnic backgrounds. Risk factors for ALS include: Some studies suggest that military veterans are about 1.5 to 2 times more likely to develop ALS. Although the reason for this is unclear, possible risk factors for veterans include exposure to lead, pesticides, and other environmental toxins. ALS is recognized as a
service-connected disease by the U.S. Department of Veterans Affairs. Sporadic ALS Familial (Genetic) ALS About 5
to 10 percent of all ALS cases are familial, which means that an individual inherits the disease from a parent. The familial form of ALS usually only requires one parent to carry the disease-causing gene. Mutations in more than a dozen genes have been found to cause familial ALS. On June 1, 2021, a team of scientists let by the
NIH and the Uniformed Services University announced it had discovered a unique form of genetic ALS that affects children as early as age 4
years. This childhood form of ALS is linked to the gene SPTLC1, that is part of the body's fat production system, and may be caused by changes in the way the body metabolizes fatty materials called lipids. top The cause of ALS is not known, and scientists do not yet know why ALS strikes some people and not
others. However, scientific evidence suggests that both genetics and environment play a role in motor neuron degeneration and the development of ALS. Genetics Research on certain gene mutations suggests that changes in the processing of RNA molecules may lead to ALS-related motor neuron degeneration. RNA molecules are involved with the production of molecules in the cell and with gene activity. Other gene mutations indicate there may be defects in protein recycling—a naturally occurring process in which malfunctioning proteins are broken down and used to build new working ones. Still others point to possible defects in the structure and shape of motor neurons, as well as increased susceptibility to environmental toxins. Environmental factors top How is ALS diagnosed?There is no single test that provides a definitive diagnosis of ALS. It is primarily diagnosed based on a detailed history of the symptoms observed by a physician during physical examination, along with a review of the individual’s full medical history and a series of tests to rule out other diseases. A neurologic examination at regular intervals can assess whether symptoms such as muscle weakness, muscle wasting, and spasticity are progressively getting worse. Muscle and imaging tests
top How is ALS treated?There is no treatment to reverse damage to motor neurons or cure ALS. However, treatments can help control symptoms, prevent unnecessary complications, and make living with the disease easier. Supportive health care is best provided by multidisciplinary teams of professionals such as physicians; pharmacists; physical, occupational, speech, and respiratory therapists; nutritionists; social workers; clinical psychologists; and home care and hospice nurses. These teams can design an individualized treatment plan and provide special equipment aimed at keeping people as mobile, comfortable, and independent as possible. Medications The U.S. Food and Drug Administration (FDA) has approved drugs to treat ALS:
Physicians can also prescribe medications to help manage symptoms of ALS, including muscle cramps, stiffness, excess saliva and phlegm, and the pseudobulbar affect (involuntary or uncontrollable episodes of crying and/or laughing, or other emotional displays). Drugs also are available to help individuals with pain, depression, sleep disturbances, and constipation. Physical and occupational therapy Physical therapy and special equipment can enhance an individual’s independence and safety throughout the course of ALS. Gentle, low-impact aerobic exercise such as walking, swimming, and stationary bicycling can strengthen unaffected muscles and range of motion and stretching exercises can help prevent painful spasticity and shortening (contracture) of muscles. Physical therapists can recommend exercises that provide these benefits without overworking muscles. Occupational therapists can suggest devices such as ramps, braces, walkers, and wheelchairs that help individuals conserve energy and remain mobile. Communications support People with ALS who have difficulty speaking may benefit from working with a speech therapist, who can teach adaptive strategies to speak louder and more clearly. As ALS progresses, speech therapists can help people maintain the ability to communicate. Devices such as computer-based speech synthesizers use eye-tracking technology and can help people develop ways for responding to yes-or-no questions with their eyes or by other nonverbal means. Some people with ALS may choose to use voice banking while they are still able to speak as a process of storing their own voice for future use in computer-based speech synthesizers. A brain-computer interface (BCI) is a system that allows individuals with ALS to communicate or control equipment such as a wheelchair using only brain activity. Researchers are developing more efficient, mobile, and even some auditory-based BCIs for those with severe paralysis and/or visual impairments. Nutritional support Nutritionists can teach individuals and caregivers how to plan and prepare small meals throughout the day that provide enough calories, fiber, and fluid and how to avoid foods that are difficult to swallow. People may begin using suction devices to remove excess fluids or saliva and prevent choking. When individuals can no longer eat, doctors may advise inserting a feeding tube, which reduces the risk of choking and pneumonia that can result from inhaling liquids into the lungs. Breathing support As the muscles responsible for breathing start to weaken, people may experience shortness of breath during physical activity and difficulty breathing at night or when lying down. Noninvasive ventilation (NIV) refers to breathing support that is usually delivered through a mask over the nose and/or mouth. Initially, NIV may only be necessary at night but may eventually be used full time. NIV improves the quality of life and prolongs survival for many people with ALS. Because the muscles that control breathing become weak, individuals with ALS may also have trouble generating a strong cough. There are several techniques to help people increase forceful coughing, including mechanical cough assistive devices. As the disease progresses, individuals may need mechanical ventilation (respirators) in which a machine inflates and deflates the lungs. Doctors may place a breathing tube through the mouth or may surgically create a hole at the front of the neck and insert a tube leading to the windpipe (tracheostomy). Although ventilation support can ease breathing problems and prolong survival, it does not affect the progression of ALS. top What research is being done?The National Institute of Neurological Disorders and Stroke (NINDS) is the primary federal funder of research on the brain and nervous system, including disorders such as ALS. NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. The goals of NINDS’s ALS research are to understand the cellular mechanisms involved in the development and progression of the disease, investigate the influence of genetics and other potential risk factors, identify biomarkers, and develop new treatments. Cellular defects. Ongoing studies seek to understand the mechanisms that selectively trigger motor neurons to degenerate in ALS, which may lead to effective approaches to halt this process. Research using cellular culture systems and animal models suggests that motor neuron death is caused by a variety of cellular defects, including those involved in protein recycling and gene regulation, as well as structural impairments of motor neurons. Increasing evidence also suggests that glial support cells and inflammation cells of the nervous system may play an important role in ALS. Stem cells. Scientists are turning skin cells of people with ALS into stem cells that are capable of becoming any cell type, including motor neurons and other cells which may be involved in the disease. NINDS-funded scientists are using stem cells to grow human spinal cord sections on tissue chips to help better understand the function of neurons involved in ALS. Genetics and epigenetics. Clinical research studies supported by NINDS are looking into how ALS symptoms change over time in people with C9ORF72 mutations. Other studies are working to identify additional genes that may cause or put a person at risk for either familial or sporadic ALS. A large-scale collaborative research effort supported by NINDS, other NIH institutes, and several public and private organizations is analyzing genetic data from thousands of individuals with ALS to discover new genes involved in the disease. By using novel gene editing tools, researchers are now able to rapidly identify new genes in the human genome involved in ALS and other neurodegenerative diseases. Additionally, researchers are looking at the potential role of epigenetics in ALS development. Epigenetic changes can switch genes on and off, which can greatly impact both health and disease. Although this research is exploratory, scientists hope that understanding epigenetics can offer new information about how ALS develops. Biomarkers. NINDS supports research on the development of biomarkers—biological measures that help identify the presence or rate of progression of a disease or the effectiveness of a therapeutic intervention. Biomarkers can be molecules derived from a bodily fluid (blood or cerebrospinal fluid), an image of the brain or spinal cord, or a measure of the ability of a nerve or muscle to process electrical signals. New treatment options. This work involves tests of drug-like compounds, gene therapy approaches, antibodies, and cell-based therapies in a range of disease models. Additionally, a number of exploratory treatments are being tested in people with ALS. top How can I be involved in research?National ALS Registry
Clinical trials NIH NeuroBioBank top Where can I get more information?For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at: BRAIN Information also is available from the following organizations: The ALS Association ALS Therapy Development Institute Les Turner ALS
Foundation Project ALS Muscular Dystrophy Association U.S. National Library of Medicine top Online text updated May 26, 2021 "Amyotrophic Lateral Sclerosis (ALS) Fact Sheet", NINDS, Publication date June 2013. NIH Publication No. 16-916 Amyotrophic Lateral Sclerosis (ALS) Brochure(pdf, 574 KB) (pdf, 561 kb) Back to Amyotrophic Lateral Sclerosis (ALS) Information Page See a list of all NINDS disorders Publicaciones en Español Esclerosis Lateral Amiotrófica Prepared by: Office of Neuroscience Communications and Engagement NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history. All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated. top |