It is estimated that as many as 30, Americans have the disease at any given time. Most people develop ALS between the ages of 40 and 70, with an average age of 55 at the time of diagnosis. However, rare cases of the disease do occur in persons in their 20s and 30s. Although the cause of ALS is not completely understood, recent research suggests that multiple complex factors contribute to the death of motor neurons. Research published in suggests that smoking tobacco may heighten a person's risk for ALS.
Diagnosing ALS is difficult because there is no single medical test for it. Also, since many neurologic diseases cause similar symptoms, these other conditions must be ruled out first, through clinical examinations and medical tests.
A comprehensive diagnostic workup includes most, if not all, of the following tests and procedures:. Individula doctors will determine which of the above tests to conduct, usually based on the physical exam and the results of previous medical tests the patient has had. Currently there is no known cure or treatment that halts or reverses the progression of ALS.
In addition, there are several promising clinical trials being conducted worldwide that are yielding important information on how to combat this disease. While the search for an effective treatment and cure continues, multidisciplinary teams across the globe are assisting patients and their families to adjust to the many challenges of living with ALS. These teams of specialists use devices and therapies to help patients manage their ALS symptoms and to allow people with the disease to maintain their independence and quality of life.
This multidisciplinary approach has also been shown to prolong survival of people who have ALS. Many people with ALS and other neuromuscular diseases decide to take part in research studies to help test new medications and treatments aimed at treating the disease. What is ALS? What are the symptoms of ALS? Who gets ALS? A feeding tube can reduce these risks and ensure proper hydration and nutrition.
Some people with ALS have problems with memory and decision-making, and some are eventually diagnosed with a form of dementia called frontotemporal dementia. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version.
Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Just what is ALS? ALS Association. Accessed June 28, Amyotrophic lateral sclerosis. Rochester, Minn. Elman LB. Clinical features of amyotrophic lateral sclerosis and other forms of motor neuron disease.
Van den Bos MAJ, et al. Pathophysiology and diagnosis of ALS: Insight from advances in neurophysiological techniques. International Journal of Molecular Sciences. Elman LB, et al. Diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease.
Crockford C, et al. Amyotrophic lateral sclerosis ALS fact sheet. National Institute of Neurological Disorders and Stroke. 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.
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. 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.
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