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About Us. There's generally no pain in the early stages of ALS , and pain is uncommon in the later stages. ALS doesn't usually affect your bladder control or your senses. ALS affects the nerve cells that control voluntary muscle movements such as walking and talking motor neurons. ALS causes the motor neurons to gradually deteriorate, and then die.
Motor neurons extend from the brain to the spinal cord to muscles throughout the body. When motor neurons are damaged, they stop sending messages to the muscles, so the muscles can't function. For the rest, the cause isn't known. Researchers continue to study possible causes of ALS. Most theories center on a complex interaction between genetic and environmental factors. Environmental factors, such as the following, might trigger ALS. As the disease progresses, ALS causes complications, such as:.
Over time, ALS paralyzes the muscles you use to breathe. You might need a device to help you breathe at night, similar to what someone with sleep apnea might wear. For example, you may be given a bilevel positive airway pressure BiPAP device to help with your breathing at night. This type of device supports your breathing through a mask worn over your nose, your mouth or both. Some people with advanced ALS choose to have a tracheostomy — a surgically created hole at the front of the neck leading to the windpipe trachea — for full-time use of a respirator that inflates and deflates their lungs.
The most common cause of death for people with ALS is respiratory failure. On average, death occurs within 3 to 5 years after symptoms begin. However, some people with ALS live 10 or more years. Most people with ALS develop trouble speaking. This usually starts as occasional, mild slurring of words, but becomes more severe.
Speech eventually becomes difficult for others to understand, and people with ALS often rely on other communication technologies to communicate. People with ALS can develop malnutrition and dehydration from damage to the muscles that control swallowing. 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. However, scientific evidence suggests that both genetics and environment play a role in motor neuron degeneration and the development of ALS.
Since then, more than a dozen additional genetic mutations have been identified, many through NINDS-supported research. 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 Researchers are studying the impact of environmental factors, such as exposure to toxic or infectious agents, viruses, physical trauma, diet, and behavioral and occupational factors.
For example, 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.
Ongoing research may show that some factors are involved in the development or progression of the disease. There is no single test that provides a definitive diagnosis of ALS. A neurologic examination at regular intervals can assess whether symptoms such as muscle weakness, muscle wasting, and spasticity are progressively getting worse.
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.
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 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. 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.
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. 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.
Initially, NIV may only be necessary at night but may eventually be used full time. 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. 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.
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