Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease is a progressive neurological disease, invariably fatal , which attacks nerve cells (neurons) responsible for controlling voluntary muscles. This disease belongs to a group of diseases called motor neuron diseases, which are characterized by gradual degeneration and death of motor neurons.
Motor neurons are nerve cells located in the brain, brainstem, and spinal cord, which serve as control units and vital communication links between the nervous system and the voluntary muscles of the body. Messages from motor neurons brain (called upper motor neurons) are transmitted to motor neurons in the spinal cord (called lower motor neurons) and from there to each particular muscle. In ALS, motor neurons both upper and lower degenerate or die and stop sending messages to muscles. Unable to function, muscles gradually weaken and spending (wasting) and contract (fasciculations). Eventually, the brain loses the ability to initiate and control voluntary movement.
ALS causes weakness with a wide range of disabilities (see the section titled "What are the symptoms?"). Are affected eventually all muscles under voluntary control and patients lose their strength and ability to move his arms, legs and body. When muscles fail diaphragm and chest wall, patients lose the ability to breathe without an artificial ventilator. Most people with ALS die of respiratory failure, usually within 3 to 5 years from onset of symptoms. However, about 10 percent of ALS patients survive 10 years or more.
Because ALS affects only motor neurons, the disease does not impair the mind, personality, intelligence or memory of the person. Nor does it affect the senses of sight, smell, taste, hearing or touch. Patients usually maintain control of eye muscles and functions of the bladder and intestines.
Who gives ALS?
About 20,000 Americans have ALS and it is estimated that another 5,000 people are diagnosed with the disease annually in the United States. ALS is one of the most common neuromuscular diseases worldwide whole and affects people of all races and ethnicities. ALS generally afflicts people between 40 and 60 years old, but can also develop young people and older. Men are affected more often than women.
In 90 to 95 percent of all cases of ALS, the disease occurs apparently at random with no clearly associated risk factor. Patients do not have a family history of disease and is not considered that members of your family have an increased risk of developing ALS.
Between 5 and 10 percent of all ALS cases are inherited. The familial form of ALS usually results from a pattern of inheritance that requires only one parent carries the gene responsible for the disease. 20 percent of all familial cases result from a specific genetic defect that leads to mutation of the enzyme known as superoxide dismutase 1 (SOD1). Research on this mutation are providing clues about the possible causes of death of motor neurons in ALS. Not all familial cases of ALS are due to the SOD1 mutation, so there are clearly other unidentified genetic causes.
What are the symptoms?
The onset of ALS may be so subtle that often ignore the symptoms. The first symptoms may include twitching, cramping or stiffness muscles, muscle weakness affecting an arm or leg, speech impaired or nose, or difficulty chewing or swallowing. These widespread complaints then become more obvious weakness or atrophy, which may lead the physician to suspect ALS.
body parts affected by early symptoms of ALS depend on which muscles in the body are damaged first. In some cases, symptoms initially affect one of the legs and patients experience difficulty walking or running or they realize they face or stumble more often. At first, some patients see the effects of the disease in one hand or arm when they have difficulty doing simple tasks that require dexterity manual as buttoning a shirt, write or turn a key into a lock. Other patients notice speech problems. However
what body part is affected first, as the disease progresses, muscle weakness and atrophy spread to other parts of the body. Patients have increasing difficulty moving, swallowing (dysphagia) and speaking or forming words (dysarthria). Symptoms of upper motor neurons that are involved include stiff or rigid muscles (spasticity), exaggerated reflexes (hyperreflexia) including an overactive reflex of arched. An abnormal reflex commonly called Babinski sign or reflex (the big toe extends upward when stimulated in some way the sole of the foot) also indicates damage to upper motor neurons. The symptoms of degeneration of lower motor neurons include weakness and muscle atrophy, muscle cramps, and fleeting muscle contractions that can be seen under the skin (fasciculations).
For patients to be diagnosed with ALS, they must have signs and symptoms of damage to the upper and lower motor neurons that can not be attributed to other causes. Although the sequence of emerging symptoms and the rate of disease progression vary from person to person, eventually patients will not stand or walk, lie down or stand up the bed alone, or use their hands and arms. Difficulty swallowing and chewing injured patient's ability to eat normally and increase the risk of jams. Keeping weight becomes a problem. Because the disease usually does not affect cognitive abilities, patients are aware of their progressive loss of functions, and can distress or depressed. Health professionals should explain the course of the disease and describe available treatments so that patients can make informed decisions in advance.
In later stages of the disease, patients have difficulty breathing because their breathing muscles are weakened. Eventually patients lose their ability to breathe on their own and depend on a ventilator to survive. Patients may also face a higher risk of pneumonia during later stages of ALS.
How is ALS diagnosed?
There is no test that can make a definite diagnosis of ALS, although the presence of signs of deterioration of the upper and lower motor neurons in a single limb is a strong indication. Rather, the diagnosis of ALS is based primarily on symptoms and signs that the doctor sees the patient and a series of tests to rule out other diseases. Doctors have a history complete medical and neurological examination usually performed at regular intervals to assess whether symptoms such as muscle weakness, muscle atrophy, hyperreflexia, and spasticity are getting progressively worse.
Because symptoms of ALS can be similar to those of a variety of other diseases or disorders easier to treat, we must perform the appropriate tests to rule out other diseases. One of these tests is electromyography (EMG), a special recording technique that detects electrical activity in muscles. Some of the EMG findings can support the diagnosis of ALS. Another common test measures the speed nerve conduction (NCV, for its acronym in English). Specific abnormalities in the NCV results may suggest, for example, that the patient has a peripheral neuropathy (damage to peripheral nerves) or myopathy (muscle disease) rather than ALS. Your doctor may order magnetic resonance imaging (MRI, for short), a noninvasive procedure that uses a magnetic field and radio waves to make detailed images of the brain and spinal cord. Although often the MRI scans are normal in patients with ALS, they may reveal problems that may be causing symptoms such as a tumor spinal cord, a herniated disc in his neck, syringomyelia, or cervical spondylosis.
According to the patient's symptoms and results of medical examinations and tests, the doctor may order blood tests and urine tests to rule out other diseases as well as routine laboratory tests. In some cases, for example, if the doctor suspects the patient is a myopathy rather than ALS, it is possible to perform a muscle biopsy.
In some cases, infectious diseases and human immunodeficiency virus (HIV) virus T cell leukemia virus (HTLV, for its acronym in English), and Lyme disease can cause symptoms similar to ALS. Neurological disorders such as multiple sclerosis, post-polio syndrome, multifocal motor neuropathy, and spinal muscular atrophy also can mimic certain facets of the disease and should be considered by physicians attempting to make a diagnosis. Because the prognosis
carrying this diagnosis and the variety of diseases or disorders that can resemble ALS in its early stages, patients may want a second neurological opinion.
What causes ALS?
not know the cause of ALS and scientists still do not know why it strikes some people and other no. A major step to answer this question came in 1993 when scientists supported by the National Institute of Neurological Disorders and Stroke (NINDS, for its acronym in English) found that mutations in the gene that produces the SOD1 enzyme were associated with some cases of familial ALS. This enzyme is a powerful antioxidant that protects the body from damage caused by free radicals. Free radicals are highly unstable molecules produced by cells during normal metabolism. If not neutralized, free radicals can accumulate and cause random damage to DNA and proteins in cells. Although it is unclear how the mutation SOD1 gene leads to motor neuron degeneration, researchers have theorized that an accumulation of free radicals can result from a malfunction of this gene. In support of this theory, animal studies show that motor neuron degeneration and deficits in motor function accompany the presence of a mutation in SOD1.
Studies also have focused on the role of glutamate in motor neuron degeneration. Glutamate is one of the chemical messengers or neurotransmitters in the brain. Scientists have found that, compared with healthy people, ALS patients have higher levels of glutamate in serum and cerebrospinal fluid (around the spinal cord). Laboratory studies have demonstrated that neurons begin to die when exposed for long periods to excessive amounts of glutamate. Now scientists are trying to understand what mechanisms lead to the unnecessary accumulation of glutamate in the cerebrospinal fluid and how this imbalance may contribute to the development of ALS
has been suggested that autoimmune responses, which occur when the body's immune system attacks normal cells-can be a cause of motor neuron degeneration in ALS. Some scientists have theorized that antibodies may directly or indirectly damage the function of motor neurons, interfering with the transmission of signals between the brain and muscles.
In the search for the cause of ALS, researchers have also studied environmental factors such as exposure to toxic or infectious agents. Another study has examined the possible role of dietary deficiency or trauma. However, to date there is insufficient evidence to implicate these factors as causes of ALS.
Future research may show that many factors, including genetic predisposition may be involved in the development of ALS.
How is ALS?
so far not found any cure for ALS. However, the Food and Drug Administration (FDA) has approved the first drug treatment for the disease-riluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing glutamate release. Clinical trials with ALS patients showed that riluzole prolongs survival by several months, especially those with difficulty swallowing. The drug also prolongs the time before the patient need to wear a respirator. Riluzole does not reverse the damage already done to motor neurons and should monitor patients taking the drug to see no damage to the liver or other side effects. However, this first disease-specific therapy offers hope that someday they can slow the progress of the commonwealth with new drugs or drug combinations.
Other treatments for ALS are designed to relieve symptoms and improve quality of life of patients. It is better that supportive care is given by teams of health professionals from various disciplines including doctors, pharmacists, physical therapists, occupational and speech therapy, nutritionists, social workers and nurses who provide home care and hospice. When working with patients and people caregivers, these teams can design an individualized plan of medical and physical therapy and provide special equipment to keep patients as mobile and comfortable as possible.
Doctors can prescribe medications to help reduce fatigue, reduce muscle cramps, control spasticity, and reduce excess saliva and phlegm. Medications are also available to help patients with pain, depression, sleep problems, and constipation. Pharmacists can advise on the use of drugs and monitor patient's prescriptions to avoid the risk of dangerous interactions between drugs.
physical therapy and special teams can improve independence and safety of patients in the course of ALS. Moderate aerobic exercise, low impact like walking, swimming or riding a stationary bike, can strengthen unaffected muscles, improve cardiovascular health, and help patients fight fatigue and depression. Exercises to improve range of motion and flexibility (stretching) can prevent spasticity and shortening (contracture) of muscles, which are very painful. Physical therapists can recommend exercises that provide these benefits without straining muscles. Occupational therapists can suggest devices such as ramps, equipment braces, walkers, and wheelchairs that help patients to conserve energy and remain mobile.
Patients with ALS who have difficulty speaking may benefit from working with a speech therapist. These health professionals can teach patients adaptive strategies such as techniques to help them speak louder and clearer. As the disease progresses, speech therapists can help patients to develop ways of answering questions in the affirmative or negative in your eyes, or other nonverbal means and can recommend equipment such as speech synthesizers and communication systems using computers. These methods and devices can help patients communicate when they can no longer speak or produce vocal sounds.
Patients and their caregivers can learn from speech therapists and nutritionists how to plan and prepare several small meals throughout the day that provide enough calories, fiber and liquids, and avoiding foods that are difficult to swallow. Patients may begin using suction devices to remove excess fluids or saliva and prevent choking. When patients can no longer get enough food eating, doctors may advise you to enter a feeding tube into the stomach. The use of a feeding tube also decreases the risk of choking and pneumonia that can result from suction fluids into the lungs. The tube is not painful and does not prevent patients were fed orally if they wish.
When the muscles that help in breathing become weak, you can use night ventilation assistance (intermittent positive pressure ventilation [IPPV, for its acronym in English] or bi-level positive pressure in the airways [BIPAP, its acronyms in English]) to help breathing when the patient is asleep. These devices artificially inflate the patient's lungs through a number of external sources that are applied directly to the face or body. When the muscles can no longer maintain the levels of oxygen and carbon dioxide, you can use these devices all the time.
Eventually, patients may consider forms of mechanical ventilation (respirators) in which a machine inflates and deflates the lungs. To be effective, it may be necessary to use a tube that passes from the nose or mouth into the trachea and, if needed for a long time, and a tracheotomy operation in which a plastic tube is inserted directly breathing in the patient's trachea through an opening in the neck. Patients and their families should consider several factors when deciding whether to use one of these options and when. Ventilation devices differ in their effect on quality of life of patients and their cost. Although the use of a respirator can relieve respiratory problems and prolong survival, its use does not affect the progression of ALS. Patients need to be fully informed about these considerations and long-term effects of a life of immobility before making a decision on the use of a respirator.
Social workers and nurses in home care or hospice can help patients, their families and their carers with medical challenges, emotional and financial faced in the care of ALS, especially in the early late disease. Social workers can assist in obtaining financial assistance in making arrangements to draft a power or mandate for the period of incapacity ("durable power of attorney") in preparing an advance directive (living will), or finding support groups for patients and their caregivers. The home care nurses are not only to provide medical care but also to teach caregivers to patients, tasks such as maintaining respirators, how to make the feeding tube and how to move patients to avoid painful skin problems and contractures. The home hospice nurse work in consultation with physicians to ensure proper medication, pain control and other care affecting the quality of life of patients who wish to remain in their homes. The hospice team that comes to the house can also counsel patients and their caregivers on issues related to life.
What research is being done?
NINDS, National Institutes of Health (NIH), is the principal federal agency that supports biomedical research on ALS. The objectives of this research is to find the cause or causes of ALS, understand the mechanisms involved in the progression of the disease, and develop a treatment effective.
Scientists are trying to understand the mechanisms that trigger certain motor neurons degenerate in ALS and to find effective approaches to halt the process leading to cell death. This work includes studies in animals to identify the means by which SOD1 mutations lead to the destruction of neurons. Is also closely studying the accumulation of free radicals, which has been implicated in several neurodegenerative diseases including ALS. In addition, researchers are examining how the loss of neurotrophic factors may be involved in ALS. Neurotrophic factors are chemicals found in brain and spinal cord that play a vital role in the development, specification, maintenance and protection of neurons. The study of how these factors may be lost and how this loss may contribute to the degeneration of motor neurons can lead to a better understanding of ALS and the development of neuroprotective strategies. In examining this and other possible factors, researchers hope to find the cause or causes of the degeneration of motor neurons in ALS and develop therapies to halt the progression of this disease.
Researchers are also conducting research to increase understanding of the Commonwealth role in cell death or apoptosis. In normal physiological processes, apoptosis acts as a means to eliminate those body cells that are no longer necessary, making commit "cell suicide." It is believed that trophic factors controlling the critical balance between necessary cell death and maintenance of essential cells. Apoptosis is also a recognized factor in other neurodegenerative diseases as well as ALS, Parkinson's disease and Alzheimer's, and is believed to be one of the main causes of secondary brain damage seen after a stroke or trauma. Discovering what triggers apoptosis may eventually lead to therapeutic interventions ALS and other neurological diseases.
Scientists have not yet identified a reliable biological marker for ALS, ie, a biochemical abnormality shared by all patients with the disease. Once such a biomarker is discovered and tests have been developed to detect the marker in patients allowing early detection and diagnosis of ALS, physicians will have a valuable tool to help them follow the effects of new therapies and monitor progress of the disease.
The NINDS-supported researchers are studying families with ALS who lack the SOD1 mutation to locate additional genes that cause disease. The identification of additional ALS genes will allow genetic testing useful for the confirmation of a diagnosis of ALS and prenatal detection of the disease. This work with familial ALS may also lead to a greater understanding of sporadic ALS. Because familial ALS is almost clinically indistinguishable from sporadic, some researchers believe that familial ALS genes may also be involved in the demonstrations of the most common form of sporadic ALS. Scientists also hope to identify genetic risk factors that predispose individuals to sporadic ALS.
are under investigation potential therapies for ALS in animal models. Part of this work involves experimental treatments with normal SOD1 and other antioxidants. You are studying neurotrophic factors for their potential to protect motor neurons from pathological degeneration. Researchers are optimistic that these and other basic research will eventually lead to treatments for ALS.
Where I can find more information?
For additional information about the NINDS research programs, contact the Resources Unit and Neurological Institute Information Network (BRAIN by its acronym in English) at: BRAIN
PO Box 5801 Bethesda, MD 20824
(800) 352-9424
http://www.ninds.nih.gov
Motor neurons are nerve cells located in the brain, brainstem, and spinal cord, which serve as control units and vital communication links between the nervous system and the voluntary muscles of the body. Messages from motor neurons brain (called upper motor neurons) are transmitted to motor neurons in the spinal cord (called lower motor neurons) and from there to each particular muscle. In ALS, motor neurons both upper and lower degenerate or die and stop sending messages to muscles. Unable to function, muscles gradually weaken and spending (wasting) and contract (fasciculations). Eventually, the brain loses the ability to initiate and control voluntary movement.
ALS causes weakness with a wide range of disabilities (see the section titled "What are the symptoms?"). Are affected eventually all muscles under voluntary control and patients lose their strength and ability to move his arms, legs and body. When muscles fail diaphragm and chest wall, patients lose the ability to breathe without an artificial ventilator. Most people with ALS die of respiratory failure, usually within 3 to 5 years from onset of symptoms. However, about 10 percent of ALS patients survive 10 years or more.
Because ALS affects only motor neurons, the disease does not impair the mind, personality, intelligence or memory of the person. Nor does it affect the senses of sight, smell, taste, hearing or touch. Patients usually maintain control of eye muscles and functions of the bladder and intestines.
Who gives ALS?
About 20,000 Americans have ALS and it is estimated that another 5,000 people are diagnosed with the disease annually in the United States. ALS is one of the most common neuromuscular diseases worldwide whole and affects people of all races and ethnicities. ALS generally afflicts people between 40 and 60 years old, but can also develop young people and older. Men are affected more often than women.
In 90 to 95 percent of all cases of ALS, the disease occurs apparently at random with no clearly associated risk factor. Patients do not have a family history of disease and is not considered that members of your family have an increased risk of developing ALS.
Between 5 and 10 percent of all ALS cases are inherited. The familial form of ALS usually results from a pattern of inheritance that requires only one parent carries the gene responsible for the disease. 20 percent of all familial cases result from a specific genetic defect that leads to mutation of the enzyme known as superoxide dismutase 1 (SOD1). Research on this mutation are providing clues about the possible causes of death of motor neurons in ALS. Not all familial cases of ALS are due to the SOD1 mutation, so there are clearly other unidentified genetic causes.
What are the symptoms?
The onset of ALS may be so subtle that often ignore the symptoms. The first symptoms may include twitching, cramping or stiffness muscles, muscle weakness affecting an arm or leg, speech impaired or nose, or difficulty chewing or swallowing. These widespread complaints then become more obvious weakness or atrophy, which may lead the physician to suspect ALS.
body parts affected by early symptoms of ALS depend on which muscles in the body are damaged first. In some cases, symptoms initially affect one of the legs and patients experience difficulty walking or running or they realize they face or stumble more often. At first, some patients see the effects of the disease in one hand or arm when they have difficulty doing simple tasks that require dexterity manual as buttoning a shirt, write or turn a key into a lock. Other patients notice speech problems. However
what body part is affected first, as the disease progresses, muscle weakness and atrophy spread to other parts of the body. Patients have increasing difficulty moving, swallowing (dysphagia) and speaking or forming words (dysarthria). Symptoms of upper motor neurons that are involved include stiff or rigid muscles (spasticity), exaggerated reflexes (hyperreflexia) including an overactive reflex of arched. An abnormal reflex commonly called Babinski sign or reflex (the big toe extends upward when stimulated in some way the sole of the foot) also indicates damage to upper motor neurons. The symptoms of degeneration of lower motor neurons include weakness and muscle atrophy, muscle cramps, and fleeting muscle contractions that can be seen under the skin (fasciculations).
For patients to be diagnosed with ALS, they must have signs and symptoms of damage to the upper and lower motor neurons that can not be attributed to other causes. Although the sequence of emerging symptoms and the rate of disease progression vary from person to person, eventually patients will not stand or walk, lie down or stand up the bed alone, or use their hands and arms. Difficulty swallowing and chewing injured patient's ability to eat normally and increase the risk of jams. Keeping weight becomes a problem. Because the disease usually does not affect cognitive abilities, patients are aware of their progressive loss of functions, and can distress or depressed. Health professionals should explain the course of the disease and describe available treatments so that patients can make informed decisions in advance.
In later stages of the disease, patients have difficulty breathing because their breathing muscles are weakened. Eventually patients lose their ability to breathe on their own and depend on a ventilator to survive. Patients may also face a higher risk of pneumonia during later stages of ALS.
How is ALS diagnosed?
There is no test that can make a definite diagnosis of ALS, although the presence of signs of deterioration of the upper and lower motor neurons in a single limb is a strong indication. Rather, the diagnosis of ALS is based primarily on symptoms and signs that the doctor sees the patient and a series of tests to rule out other diseases. Doctors have a history complete medical and neurological examination usually performed at regular intervals to assess whether symptoms such as muscle weakness, muscle atrophy, hyperreflexia, and spasticity are getting progressively worse.
Because symptoms of ALS can be similar to those of a variety of other diseases or disorders easier to treat, we must perform the appropriate tests to rule out other diseases. One of these tests is electromyography (EMG), a special recording technique that detects electrical activity in muscles. Some of the EMG findings can support the diagnosis of ALS. Another common test measures the speed nerve conduction (NCV, for its acronym in English). Specific abnormalities in the NCV results may suggest, for example, that the patient has a peripheral neuropathy (damage to peripheral nerves) or myopathy (muscle disease) rather than ALS. Your doctor may order magnetic resonance imaging (MRI, for short), a noninvasive procedure that uses a magnetic field and radio waves to make detailed images of the brain and spinal cord. Although often the MRI scans are normal in patients with ALS, they may reveal problems that may be causing symptoms such as a tumor spinal cord, a herniated disc in his neck, syringomyelia, or cervical spondylosis.
According to the patient's symptoms and results of medical examinations and tests, the doctor may order blood tests and urine tests to rule out other diseases as well as routine laboratory tests. In some cases, for example, if the doctor suspects the patient is a myopathy rather than ALS, it is possible to perform a muscle biopsy.
In some cases, infectious diseases and human immunodeficiency virus (HIV) virus T cell leukemia virus (HTLV, for its acronym in English), and Lyme disease can cause symptoms similar to ALS. Neurological disorders such as multiple sclerosis, post-polio syndrome, multifocal motor neuropathy, and spinal muscular atrophy also can mimic certain facets of the disease and should be considered by physicians attempting to make a diagnosis. Because the prognosis
carrying this diagnosis and the variety of diseases or disorders that can resemble ALS in its early stages, patients may want a second neurological opinion.
What causes ALS?
not know the cause of ALS and scientists still do not know why it strikes some people and other no. A major step to answer this question came in 1993 when scientists supported by the National Institute of Neurological Disorders and Stroke (NINDS, for its acronym in English) found that mutations in the gene that produces the SOD1 enzyme were associated with some cases of familial ALS. This enzyme is a powerful antioxidant that protects the body from damage caused by free radicals. Free radicals are highly unstable molecules produced by cells during normal metabolism. If not neutralized, free radicals can accumulate and cause random damage to DNA and proteins in cells. Although it is unclear how the mutation SOD1 gene leads to motor neuron degeneration, researchers have theorized that an accumulation of free radicals can result from a malfunction of this gene. In support of this theory, animal studies show that motor neuron degeneration and deficits in motor function accompany the presence of a mutation in SOD1.
Studies also have focused on the role of glutamate in motor neuron degeneration. Glutamate is one of the chemical messengers or neurotransmitters in the brain. Scientists have found that, compared with healthy people, ALS patients have higher levels of glutamate in serum and cerebrospinal fluid (around the spinal cord). Laboratory studies have demonstrated that neurons begin to die when exposed for long periods to excessive amounts of glutamate. Now scientists are trying to understand what mechanisms lead to the unnecessary accumulation of glutamate in the cerebrospinal fluid and how this imbalance may contribute to the development of ALS
has been suggested that autoimmune responses, which occur when the body's immune system attacks normal cells-can be a cause of motor neuron degeneration in ALS. Some scientists have theorized that antibodies may directly or indirectly damage the function of motor neurons, interfering with the transmission of signals between the brain and muscles.
In the search for the cause of ALS, researchers have also studied environmental factors such as exposure to toxic or infectious agents. Another study has examined the possible role of dietary deficiency or trauma. However, to date there is insufficient evidence to implicate these factors as causes of ALS.
Future research may show that many factors, including genetic predisposition may be involved in the development of ALS.
How is ALS?
so far not found any cure for ALS. However, the Food and Drug Administration (FDA) has approved the first drug treatment for the disease-riluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing glutamate release. Clinical trials with ALS patients showed that riluzole prolongs survival by several months, especially those with difficulty swallowing. The drug also prolongs the time before the patient need to wear a respirator. Riluzole does not reverse the damage already done to motor neurons and should monitor patients taking the drug to see no damage to the liver or other side effects. However, this first disease-specific therapy offers hope that someday they can slow the progress of the commonwealth with new drugs or drug combinations.
Other treatments for ALS are designed to relieve symptoms and improve quality of life of patients. It is better that supportive care is given by teams of health professionals from various disciplines including doctors, pharmacists, physical therapists, occupational and speech therapy, nutritionists, social workers and nurses who provide home care and hospice. When working with patients and people caregivers, these teams can design an individualized plan of medical and physical therapy and provide special equipment to keep patients as mobile and comfortable as possible.
Doctors can prescribe medications to help reduce fatigue, reduce muscle cramps, control spasticity, and reduce excess saliva and phlegm. Medications are also available to help patients with pain, depression, sleep problems, and constipation. Pharmacists can advise on the use of drugs and monitor patient's prescriptions to avoid the risk of dangerous interactions between drugs.
physical therapy and special teams can improve independence and safety of patients in the course of ALS. Moderate aerobic exercise, low impact like walking, swimming or riding a stationary bike, can strengthen unaffected muscles, improve cardiovascular health, and help patients fight fatigue and depression. Exercises to improve range of motion and flexibility (stretching) can prevent spasticity and shortening (contracture) of muscles, which are very painful. Physical therapists can recommend exercises that provide these benefits without straining muscles. Occupational therapists can suggest devices such as ramps, equipment braces, walkers, and wheelchairs that help patients to conserve energy and remain mobile.
Patients with ALS who have difficulty speaking may benefit from working with a speech therapist. These health professionals can teach patients adaptive strategies such as techniques to help them speak louder and clearer. As the disease progresses, speech therapists can help patients to develop ways of answering questions in the affirmative or negative in your eyes, or other nonverbal means and can recommend equipment such as speech synthesizers and communication systems using computers. These methods and devices can help patients communicate when they can no longer speak or produce vocal sounds.
Patients and their caregivers can learn from speech therapists and nutritionists how to plan and prepare several small meals throughout the day that provide enough calories, fiber and liquids, and avoiding foods that are difficult to swallow. Patients may begin using suction devices to remove excess fluids or saliva and prevent choking. When patients can no longer get enough food eating, doctors may advise you to enter a feeding tube into the stomach. The use of a feeding tube also decreases the risk of choking and pneumonia that can result from suction fluids into the lungs. The tube is not painful and does not prevent patients were fed orally if they wish.
When the muscles that help in breathing become weak, you can use night ventilation assistance (intermittent positive pressure ventilation [IPPV, for its acronym in English] or bi-level positive pressure in the airways [BIPAP, its acronyms in English]) to help breathing when the patient is asleep. These devices artificially inflate the patient's lungs through a number of external sources that are applied directly to the face or body. When the muscles can no longer maintain the levels of oxygen and carbon dioxide, you can use these devices all the time.
Eventually, patients may consider forms of mechanical ventilation (respirators) in which a machine inflates and deflates the lungs. To be effective, it may be necessary to use a tube that passes from the nose or mouth into the trachea and, if needed for a long time, and a tracheotomy operation in which a plastic tube is inserted directly breathing in the patient's trachea through an opening in the neck. Patients and their families should consider several factors when deciding whether to use one of these options and when. Ventilation devices differ in their effect on quality of life of patients and their cost. Although the use of a respirator can relieve respiratory problems and prolong survival, its use does not affect the progression of ALS. Patients need to be fully informed about these considerations and long-term effects of a life of immobility before making a decision on the use of a respirator.
Social workers and nurses in home care or hospice can help patients, their families and their carers with medical challenges, emotional and financial faced in the care of ALS, especially in the early late disease. Social workers can assist in obtaining financial assistance in making arrangements to draft a power or mandate for the period of incapacity ("durable power of attorney") in preparing an advance directive (living will), or finding support groups for patients and their caregivers. The home care nurses are not only to provide medical care but also to teach caregivers to patients, tasks such as maintaining respirators, how to make the feeding tube and how to move patients to avoid painful skin problems and contractures. The home hospice nurse work in consultation with physicians to ensure proper medication, pain control and other care affecting the quality of life of patients who wish to remain in their homes. The hospice team that comes to the house can also counsel patients and their caregivers on issues related to life.
What research is being done?
NINDS, National Institutes of Health (NIH), is the principal federal agency that supports biomedical research on ALS. The objectives of this research is to find the cause or causes of ALS, understand the mechanisms involved in the progression of the disease, and develop a treatment effective.
Scientists are trying to understand the mechanisms that trigger certain motor neurons degenerate in ALS and to find effective approaches to halt the process leading to cell death. This work includes studies in animals to identify the means by which SOD1 mutations lead to the destruction of neurons. Is also closely studying the accumulation of free radicals, which has been implicated in several neurodegenerative diseases including ALS. In addition, researchers are examining how the loss of neurotrophic factors may be involved in ALS. Neurotrophic factors are chemicals found in brain and spinal cord that play a vital role in the development, specification, maintenance and protection of neurons. The study of how these factors may be lost and how this loss may contribute to the degeneration of motor neurons can lead to a better understanding of ALS and the development of neuroprotective strategies. In examining this and other possible factors, researchers hope to find the cause or causes of the degeneration of motor neurons in ALS and develop therapies to halt the progression of this disease.
Researchers are also conducting research to increase understanding of the Commonwealth role in cell death or apoptosis. In normal physiological processes, apoptosis acts as a means to eliminate those body cells that are no longer necessary, making commit "cell suicide." It is believed that trophic factors controlling the critical balance between necessary cell death and maintenance of essential cells. Apoptosis is also a recognized factor in other neurodegenerative diseases as well as ALS, Parkinson's disease and Alzheimer's, and is believed to be one of the main causes of secondary brain damage seen after a stroke or trauma. Discovering what triggers apoptosis may eventually lead to therapeutic interventions ALS and other neurological diseases.
Scientists have not yet identified a reliable biological marker for ALS, ie, a biochemical abnormality shared by all patients with the disease. Once such a biomarker is discovered and tests have been developed to detect the marker in patients allowing early detection and diagnosis of ALS, physicians will have a valuable tool to help them follow the effects of new therapies and monitor progress of the disease.
The NINDS-supported researchers are studying families with ALS who lack the SOD1 mutation to locate additional genes that cause disease. The identification of additional ALS genes will allow genetic testing useful for the confirmation of a diagnosis of ALS and prenatal detection of the disease. This work with familial ALS may also lead to a greater understanding of sporadic ALS. Because familial ALS is almost clinically indistinguishable from sporadic, some researchers believe that familial ALS genes may also be involved in the demonstrations of the most common form of sporadic ALS. Scientists also hope to identify genetic risk factors that predispose individuals to sporadic ALS.
are under investigation potential therapies for ALS in animal models. Part of this work involves experimental treatments with normal SOD1 and other antioxidants. You are studying neurotrophic factors for their potential to protect motor neurons from pathological degeneration. Researchers are optimistic that these and other basic research will eventually lead to treatments for ALS.
Where I can find more information?
For additional information about the NINDS research programs, contact the Resources Unit and Neurological Institute Information Network (BRAIN by its acronym in English) at: BRAIN
PO Box 5801 Bethesda, MD 20824
(800) 352-9424
http://www.ninds.nih.gov
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