47 Facts About ALS


Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting.

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Limb-onset ALS begins with weakness in the arms or legs, while bulbar-onset ALS begins with difficulty speaking or swallowing.

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However, unlike most individuals with ALS, Hawking managed to survive his illness for another 55 years.

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The first ALS gene was discovered in 1993 while the first animal model was developed in 1994.

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ALS is a motor neuron disease, spelled "motor neurone disease", which is a group of neurological disorders that selectively affect motor neurons, the cells that control voluntary muscles of the body.

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ALS can be classified by the types of motor neurons that are affected.

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Typical or "classical" ALS involves upper motor neurons in the brain and lower motor neurons in the spinal cord.

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Limb-onset ALS begins with weakness in the arms and legs and accounts for about two-thirds of all classic ALS cases.

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Bulbar-onset ALS begins with weakness in the muscles of speech, chewing, and swallowing and accounts for the other one-third of cases.

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Respiratory-onset ALS has the worst prognosis of any ALS variant; in a population-based study, those with respiratory-onset had a median survival of 1.

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Regional variants of ALS have symptoms that are limited to a single spinal cord region for at least a year; they progress more slowly than classic ALS and are associated with longer survival.

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Isolated bulbar ALS is characterized by upper or lower motor neuron damage in the bulbar region only, leading to gradual onset of difficulty with speech and swallowing ; breathing is generally preserved, at least initially.

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People who develop young-onset ALS are more likely to be male, less likely to have bulbar onset of symptoms, and more likely to have a slower progression of disease.

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The parts of the body affected by early symptoms of ALS depend on which motor neurons in the body are damaged first.

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The most common cause of death among people with ALS are respiratory failure or pneumonia and most people with ALS die in their own home from the former cause, with their breath stopping while they sleep.

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ALS can be classified as familial or sporadic, depending on whether or not there is a family history of the disease.

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The strictest definition is that a person with ALS must have two or more first-degree relatives who have ALS.

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ALS has an oligogenic mode of inheritance, meaning that mutations in two or more genes are required to cause disease.

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However, this increased risk was calculated on the basis of two deaths from Alzheimer's disease and six deaths from ALS out of 334 deaths total in this cohort, meaning that this study does not definitively prove that playing American football is a risk factor for ALS.

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The pathological hallmark of ALS is the presence of inclusion bodies known as Bunina bodies in the cytoplasm of motor neurons.

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The gross pathology of ALS, which are features of the disease that can be seen with the naked eye, include skeletal muscle atrophy, motor cortex atrophy, sclerosis of the corticospinal and corticobulbar tracts, thinning of the hypoglossal nerves, and thinning of the anterior roots of the spinal cord.

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The genes known to be involved in ALS can be grouped into three general categories based on their normal function: protein degradation, the cytoskeleton, and RNA processing.

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Three genes implicated in ALS that are important for maintaining the cytoskeleton and for axonal transport include DCTN1, PFN1, and TUBA4A.

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Diagnosis of ALS is based on the El Escorial Revised criteria and the Awaji criteria.

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The Awaji criteria give abnormal EMG tests the same weight as clinical signs of LMN dysfunction in making the diagnosis of ALS, thus making the "laboratory-supported probable ALS" category unnecessary.

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Symptoms of ALS can be similar to those of a wide variety of other, more treatable diseases or disorders, appropriate tests must be conducted to exclude the possibility of other conditions.

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People with ALS should begin treatment with riluzole as soon as possible following their diagnosis.

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Non-invasive ventilation is the primary treatment for respiratory failure in ALS and was the first treatment shown to improve both survival and quality of life.

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The person with ALS will continue to lose motor function, making communication increasingly difficult and sometimes leading to locked-in syndrome, in which they are completely paralyzed except for their eye muscles.

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About half of the people with ALS who choose to undergo invasive ventilation report a decrease in their quality of life but most still consider it to be satisfactory.

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Weight loss in ALS is caused by muscle wasting due to motor neuron death, increased resting energy expenditure, and decreased food intake.

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People with ALS should eat soft, moist foods, which tend to be easier to swallow than dry, crumbly, or chewy foods.

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ALS is the most common motor neuron disease in adults and the third most common neurodegenerative disease after Alzheimer's disease and Parkinson's disease.

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The lifetime risk of developing ALS is 1:350 for European men and 1:400 for European women.

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ALS can affect people at any age, but the peak incidence is between 50 and 75 years and decreases dramatically after 80 years.

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Sporadic ALS usually starts around the ages of 58 to 63 years, while familial ALS starts earlier, usually around 47 to 52 years.

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Flail leg syndrome, another regional variant of ALS, was first described by Pierre Marie and his student Patrikios in 1918.

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In 1945, American naval doctors reported that ALS was 100 times more prevalent among the Chamorro people of Guam than in the rest of the world.

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In 1996, the ALS Functional Rating Scale was first published; it was a 10-item questionnaire that measured the ability of people with ALS to perform activities of daily living.

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The resulting ALS Functional Rating Scale - Revised is a 12-item questionnaire that replaces the single question about breathing with a question each about dyspnea, orthopnea, and respiratory insufficiency.

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In 1990, the World Federation of Neurology held a meeting at El Escorial, Spain, to come up with precise diagnostic criteria for ALS to help standardize clinical trials; the resulting "El Escorial" criteria were published in 1994.

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ALS is sometimes referred to as Charcot's disease, because Jean-Martin Charcot was the first to connect the clinical symptoms with the pathology seen at autopsy.

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In some countries, especially the United States, ALS is called Lou Gehrig's disease after the American baseball player Lou Gehrig who developed ALS in 1938.

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Many different organisms are used as models for studying ALS, including Saccharomyces cerevisiae, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Mus musculus, and Rattus norvegicus .

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Much of the present understanding of ALS pathophysiology came from studying mouse models that overexpress mutant SOD1, especially SOD1 mice.

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Cellular models used to study ALS include the yeast Saccharomyces cerevisiae and rat or mouse motor neurons in culture.

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In most preclinical studies the SOD1 mice were given the drug during the presymptomatic stage, which makes the results less likely to apply to people with ALS, who begin treatment well after their symptoms begin.

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