"Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. Possible associations for which evidence is inconclusive include military service and smoking.

Drugs also are available to help individuals with pain, depression, sleep disturbances, and constipation. http://www.alsa.org/als-care/resources/publications-videos/resource-guides/. [17], People of all races and ethnic backgrounds may be affected by ALS,[18] but it is more common in whites than in Africans, Asians, or Hispanics.

You might need an integrated team of doctors trained in many areas and other health care professionals to provide your care. [26], ALS can be classified by the types of motor neurons that are affected.

All rights reserved. You might need many tests to diagnose your condition, which can be stressful and frustrating. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. Any one or more of the following factors may be responsible for the disease: It is also likely that specific gene mutations and/or heredity modifies the disease and the likelihood of developing it. [108], A feeding tube should be considered if someone with ALS loses 5% or more of their body weight or if they cannot safely swallow food and water. [103], People with ALS who have difficulty speaking may benefit from working with a speech-language pathologist. ALS is often called Lou Gehrig's disease, after the baseball player who was diagnosed with it. You can choose mechanical ventilation to help you breathe. There is an increased risk of ALS in military veterans. People may begin using suction devices to remove excess fluids or saliva and prevent choking. [102] These health professionals can teach people adaptive strategies such as techniques to help them speak louder and more clearly. [19] Flail arm syndrome, a regional variant of ALS, was first described by Alfred Vulpian in 1886. [53] Genetically, C9orf72 repeat expansions account for about 40% of familial ALS and 25% of familial FTD.

Our caring team of Mayo Clinic experts can help you with your Amyotrophic lateral sclerosis (ALS)-related health concerns In breath stacking, a person takes a series of small breaths without exhaling until the lungs are full, briefly holds the breath, and then expels the air with a cough. For information about finding and participating in a clinical trial, visit NIH Clinical Research Trials and You at www.nih.gov/health/clinicaltrials. [4], A number of infectious diseases can sometimes cause ALS-like symptoms,[4] including human immunodeficiency virus (HIV), human T-lymphotropic virus (HTLV), Lyme disease, and syphilis.

[15], Hospice care, or palliative care at the end of life, is especially important in ALS because it helps to optimize the management of symptoms and increases the likelihood of a peaceful death. On average, death occurs within three to five years after symptoms begin.

[3] About half of these genetic cases are due to one of two specific genes. [35], Cognitive or behavioral dysfunction is present in 30–50% of individuals with ALS. It is mandatory to procure user consent prior to running these cookies on your website. [19] In 1869, the connection between the symptoms and the underlying neurological problems was first described by Jean-Martin Charcot, who in 1874 began using the term amyotrophic lateral sclerosis. [104] PEG insertion is usually performed with the intent of improving quality of life. [5] Mechanical ventilation can prolong survival but does not stop disease progression. ALS is typically a disease that involves a gradual onset. Doctors might test your breathing regularly and provide you with devices to assist your breathing at night. Clinical trials offer hope for many people and an opportunity to help researchers find better ways to safely detect, treat, or prevent disease. US National Institutes of Health Clinical Trials Registry, Weakness in muscles of the hands, arms or legs, Twitching and cramping of muscles, especially those in the hands and feet, Weakness in the muscles that control speech, swallowing or breathing, Slow or slurred speech (called dysarthria or “thick speech”) and difficulty in projecting the voice, Accumulation of protein aggregates (clumps). One thought is that people who survive into their 80s may not be genetically susceptible to developing ALS; alternatively, ALS in the elderly might go undiagnosed because of comorbidities (other diseases they have), difficulty seeing a neurologist, or dying quickly from an aggressive form of ALS. About 60% of the people reported to have ALS in the United States are men, and 93% of patients are caucasian.

[17], ALS can be classified as familial or sporadic, depending on whether or not there is a family history of the disease. About 5 to 10 percent of all ALS cases are familial, which means that an individual inherits the disease from his or her parents. This observation provides evidence for genetic ties between these two neurodegenerative disorders. [113] In Europe, the number of new cases a year is about 2.6 people per 100,000, while the number affected is 7–9 people per 100,000. [55], A 2016 review of 16 meta-analyses concluded that there was convincing evidence for an association with chronic occupational exposure to lead; suggestive evidence for farming, exposure to heavy metals other than lead, beta-carotene intake, and head injury; and weak evidence for omega-three fatty acid intake, exposure to extremely low frequency electromagnetic fields, pesticides, and serum uric acid. [84], Other names for ALS include Charcot's disease, Lou Gehrig's disease, and motor neurone disease. [13] The remaining 5–10% of cases are inherited from a person's parents. Accessed June 29, 2019. Prospective donors can begin the enrollment process by visiting https://neurobiobank.nih.gov/donors-how-become-donor/. © 2019 American Brain Society. It is a group of conditions that affect muscle-controlling nerves in the brain and spinal cord. Concussion Suit", "Kevin Turner, N.F.L. [105] Early discussion of end-of-life issues gives people with ALS time to reflect on their preferences for end-of-life care and can help avoid unwanted interventions or procedures. [97], Non-invasive ventilation (NIV) is the main treatment for respiratory failure in ALS. 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. [e][f][95][108] It may work by protecting motor neurons from oxidative stress. A liability threshold model for ALS proposes that cellular damage accumulates over time due to genetic factors present at birth and exposure to environmental risks throughout life. 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. Allscripts EPSi. Because the muscles that control breathing become weak, individuals with ALS may also have trouble generating a strong cough. [10] Atropine, scopolamine, amitriptyline or glycopyrrolate may be prescribed when people with ALS begin having trouble swallowing their saliva (sialorrhea). http://www.alsa.org/about-als/. People with ALS should eat soft, moist foods, which tend to be easier to swallow than dry, crumbly, or chewy foods. [70], Both soccer and American football have been identified as risk factors for ALS in several studies, although this association is based on small numbers of ALS cases. [143] Masitinib has been approved as an orphan drug in Europe and the United States, with studies ongoing as of 2016[update]. [38] However, cognitive and behavioral dysfunctions have been found to correlate with reduced survival in people with ALS and increased caregiver burden; this may be due in part to deficits in social cognition. The discovery of certain genetic mutations involved in ALS suggests that changes in the processing of RNA molecules may lead to ALS-related motor neuron degeneration. However, the presence of upper and lower motor neuron symptoms strongly suggests the presence of the disease. Occupational therapists can provide or recommend equipment and adaptations to enable ALS people to retain as much safety and independence in activities of daily living as possible. In later stages of the disorder, aspiration pneumonia can develop, and maintaining a healthy weight can become a significant problem that may require the insertion of a feeding tube. Signs and symptoms of ALS vary greatly from person to person, depending on which neurons are affected. In 2013, the NFL reached a $765 million agreement to compensate more than five thousand former NFL players for concussion-related injuries and illnesses. Individuals may develop problems with moving, swallowing (dysphagia), speaking or forming words (dysarthria), and breathing (dyspnea).

[96], Other medications may be used to help reduce fatigue, ease muscle cramps, control spasticity, and reduce excess saliva and phlegm. These cookies will be stored in your browser only with your consent. 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. The Awaji criteria give abnormal EMG tests the same weight as clinical signs of LMN dysfunction in making the diagnosis of ALS,[29] thus making the "laboratory-supported probable ALS" category unnecessary. [46] Familial ALS is usually said to account for 10% of all cases of ALS, though estimates range from 5%[47] to 20%. Familial versus sporadic ALS

Amyotrophic lateral sclerosis (ALS) is a group of rare neurological diseases that mainly involve the nerve cells (neurons) responsible for controlling voluntary muscle movement. [22] This led to the development of the first animal model of ALS, the transgenic SOD1 mouse, in 1994. 2018;91:e1370. In other cases, the gene mutations may be triggered by external environmental factors. [16], Progressive muscular atrophy (PMA) accounts for about 5% of all cases of ALS and affects lower motor neurons in the arms and legs.

Despite a number of genetic and environmental studies, the cause of ALS/PDC remains unknown.

Small-animal models include the fruit fly, the roundworm C. elegans, and the zebrafish. Tests to rule out other conditions might include: Electromyogram (EMG). http://www.alsa.org/news/archive/smoking-may-now-be-considered.html. Unable to function, the muscles gradually weaken, start to twitch (called fasciculations), and waste away (atrophy). While the peak age of onset is 58 to 63 for sporadic ALS and 47 to 52 for familial ALS,[3] about 10% of all cases of ALS begin before age 45 ("young-onset" ALS), and about 1% of all cases begin before age 25 (juvenile ALS). More information about ALS research supported by NINDS and other NIH Institutes and Centers can be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and other federal agencies. NIH High-Risk, High Reward Research Program on ALS. A physical therapist can also help you adjust to a brace, walker or wheelchair and might suggest devices such as ramps that make it easier for you to get around. 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. Flail leg syndrome, another regional variant of ALS, was first described by Pierre Marie and his student Patrikios in 1918.

The cause of ALS is not known, and scientists do not yet know why ALS strikes some people and not others.