Amyotrophic Lateral Sclerosis (ALS) Fact Sheet
Mutations in more than a dozen genes have been found to cause familial ALS. About 25 to 40 percent of all familial cases (and a small percentage of sporadic cases) are caused by a defect in a gene known as “chromosome 9 open reading frame 72,” or C9ORF Familial ALS (FALS) accounts for 5 to 10 percent of all cases in the U.S. Familial ALS means the disease is inherited. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease. French neurologist Jean-Martin Charcot discovered the disease in
ALS is a neurodegenerative disease that affects the upper motor neurons in the brain, and the lower motor neurons, which are in the spinal cord and brainstem. Upper motor neuron degeneration generally causes what makes guys get turned on tightness in causes musclewhile lower motor neuron degeneration causes muscle weakness, muscle atrophy shrinkage of muscles and twitching.
ALS can be familial or inherited, which is passed from the parents to the children. Familial ALS is very rare. Only about 5 to 10 percent of ALS cases are ia, and it usually only requires one parent to carry the genetic mutation responsible for the disease.
Mutations in more than a dozen genes have been found to cause familial ALS. Some individuals with this genetic mutation may experience both motor neuron bu dementia symptoms.
Another 12 to 20 percent of familial cases result from mutations in the gene that provides instructions for the production of the copper-zinc superoxide dismutase 1 SOD1 enzyme how to contact xbox live by phone binds to copper and zinc molecules to break down toxic, charged oxygen molecules — called superoxide radicals — that are byproducts of normal cell processes.
These molecules must be broken down regularly to avoid damaging cells. In cases where the SOD1 enzyme is not working properly, these molecules accumulate in nerve cells and cause their death, leading to ALS. Most non-inherited ALS cases 90 causee or more are considered to be sporadic.
Apart from genetic mutations, scientists have proposed other possible causes of non-inherited forms of ALSincluding a chemical imbalance, an overactive immune response, and protein mishandling. People with ALS generally have higher than normal levels of glutamate, a chemical messenger in the brain and what is als caused by the spinal fluid around nerve cells. High levels of glutamate are toxic to some nerve cells and may cause ALS. Mishandled proteins or proteins incorrectly processed, within the nerve cells may lead to a gradual accumulation of abnormal forms of these proteins in the cells, seriously damaging or directly killing them.
Researchers believe that the inability of a protein system to repair nerve cells that tell the muscles what to do leads to ALS. This protein, called ubiquilin2is involved in recycling vaused and misformed proteins in key nerve cells. In people cauused ALS, ubiquilin2 does not work as it should, leading to an accumulation of the damaged proteins and ubiquilin2 in critical nerve cells in the spinal cord and ie brain.
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May 19, · Mutations in more than a dozen genes have been found to cause familial ALS. About 25 to 40 percent of all familial cases, however, is caused by a defect in a gene called “chromosome 9 open reading frame 72,” or C9ORF Some individuals with this genetic mutation may experience both motor neuron and dementia symptoms.
What is amyotrophic lateral sclerosis? Who gets ALS? What are the symptoms? How is ALS diagnosed? What causes ALS?
How is ALS treated? What research is being done? How can I help research? Where can I get more information? Amyotrophic lateral sclerosis ALS is a group of rare neurological diseases that mainly involve the nerve cells neurons responsible for controlling voluntary muscle movement.
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. These motor neurons initiate and provide vital communication links between the brain and the voluntary muscles.
Messages from motor neurons in the brain called upper motor neurons are transmitted to motor neurons in the spinal cord and to motor nuclei of brain called lower motor neurons and from the spinal cord and motor nuclei of brain to a particular muscle or muscles.
In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, and stop sending messages to the muscles. Unable to function, the muscles gradually weaken, start to twitch called fasciculations , 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 muscles under voluntary control 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 is a common neuromuscular disease worldwide. It affects people of all races and ethnic backgrounds. Some studies suggest that military veterans are about 1. 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. Department of Veterans Affairs. This means the disease seems to occur at random with no clearly associated risk factors and no family history of the disease.
Although family members of people with sporadic ALS are at an increased risk for the disease, the overall risk is very low and most will not develop ALS. The familial form of ALS usually only requires one parent to carry the gene responsible for the disease.
Mutations in more than a dozen genes have been found to cause familial ALS. Interestingly, the same mutation can be associated with atrophy of frontal-temporal lobes of the brain causing frontal-temporal lobe dementia. Another 12 to 20 percent of familial cases result from mutations in the gene that provides instructions for the production of the enzyme copper-zinc superoxide dismutase 1 SOD1. The onset of ALS can be so subtle that the symptoms are overlooked but gradually these symptoms develop into more obvious weakness or atrophy that may cause a physician to suspect ALS.
Some of the early symptoms include:. For many individuals the first sign of ALS may appear in the hand or arm as they experience difficulty with simple tasks such as buttoning a shirt, writing, or turning a key in a lock. In other cases, symptoms initially affect one of the legs, and people experience awkwardness when walking or running or they notice that they are tripping or stumbling more often.
Regardless of where the symptoms first appear, muscle weakness and atrophy spread to other parts of the body as the disease progresses. Individuals may develop problems with moving, swallowing dysphagia , speaking or forming words dysarthria , and breathing dyspnea. Although the sequence of emerging symptoms and the rate of disease progression 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 normally and increases the risk of choking. 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 retain their ability to 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 will have difficulty breathing as the muscles of the respiratory system weaken. They 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. No one test can provide a definitive diagnosis of ALS. ALS is primarily diagnosed based on detailed history of the symptoms and signs observed by a physician during physical examination along with a series of tests to rule out other mimicking diseases. However, the presence of upper and lower motor neuron symptoms strongly suggests the presence of the disease.
ALS symptoms in the early stages of the disease can be similar to those of a wide variety of other, more treatable diseases or disorders. Appropriate tests can exclude the possibility of other conditions. Muscle and imaging tests Electromyography EMG , a special recording technique that detects electrical activity of muscle fibers, can help diagnose ALS. Specific abnormalities in the NCS and EMG may suggest, for example, that the individual has a form of peripheral neuropathy damage to peripheral nerves outside of the brain and spinal cord or myopathy muscle disease rather than ALS.
A physician may also order a magnetic resonance imaging MRI test, a noninvasive procedure that uses a magnetic field and radio waves to produce detailed images of the brain and spinal cord. However, they can reveal other problems that may be causing the symptoms, such as a spinal cord tumor, a herniated disk in the neck that compresses the spinal cord, syringomyelia a cyst in the spinal cord , or cervical spondylosis abnormal wear affecting the spine in the neck.
Fasciculations and muscle cramps also occur in benign conditions. Because of the prognosis carried by this diagnosis and the variety of diseases or disorders that can resemble ALS in the early stages of the disease, individuals may wish to obtain a second neurological opinion.
However, evidence from scientific studies suggests that both genetics and environment play a role in the development of ALS. Although it is still not clear how mutations in the SOD1 gene lead to motor neuron degeneration, there is increasing evidence that the gene playing a role in producing mutant SOD1 protein can become toxic.
Since then, more than a dozen additional genetic mutations have been identified, many through NINDS-supported research, and each of these gene discoveries is providing new insights into possible mechanisms of ALS. RNA molecules are one of the major macromolecules in the cell involved in directing the synthesis of specific proteins as well as gene regulation and activity.
Other gene mutations indicate defects in the natural process in which malfunctioning proteins are broken down and used to build new ones, known as protein recycling. Still others point to possible defects in the structure and shape of motor neurons, as well as increased susceptibility to environmental toxins. Overall, it is becoming increasingly clear that a number of cellular defects can lead to motor neuron degeneration in ALS. In another important discovery was made when scientists found that a defect in the C9ORF72 gene is not only present in a significant subset of individuals with ALS but also in some people with a type of frontotemporal dementia FTD.
This observation provides evidence for genetic ties between these two neurodegenerative disorders. Environmental factors In searching for the cause of ALS, researchers are also studying the impact of environmental factors. Researchers are investigating a number of possible causes such as exposure to toxic or infectious agents, viruses, physical trauma, diet, and behavioral and occupational factors. For example, researchers have suggested that exposure to toxins during warfare, or strenuous physical activity, are possible reasons for why some veterans and athletes may be at increased risk of developing ALS.
Although there has been no consistent association between any environmental factor and the risk of developing ALS, future research may show that some factors are involved in the development or progression of the disease.
No cure has yet been found for ALS. However, there are treatments available that can help control symptoms, prevent unnecessary complications, and make living with the disease easier. Supportive care is best provided by multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; social workers; respiratory therapists and 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. Medication The U. Riluzole is believed to reduce damage to motor neurons by decreasing levels of glutamate, which transports messages between nerve cells and motor neurons.
Clinical trials in people with ALS showed that riluzole prolongs survival by a few months, particularly in the bulbar form of the disease, but does not reverse the damage already done to motor neurons. Edaravone has been shown to slow the decline in clinical assessment of daily functioning in persons with ALS.
Drugs also are available to help individuals with pain, depression, sleep disturbances, and constipation. Gentle, low-impact aerobic exercise such as walking, swimming, and stationary bicycling can strengthen unaffected muscles, improve cardiovascular health, and help people fight fatigue and depression.
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.
Speech therapy 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. They can recommend aids such as computer-based speech synthesizers that 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. These methods and devices help people communicate when they can no longer speak or produce vocal sounds.
Nutritional support Nutritional support is an important part of the care of people with ALS. It has been shown that individuals with ALS will get weaker if they lose weight. 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 get enough nourishment from eating, doctors may advise inserting a feeding tube into the stomach.
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