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| title | chunk | source | category | tags | date_saved | instance |
|---|---|---|---|---|---|---|
| ALS | 1/11 | https://en.wikipedia.org/wiki/ALS | reference | science, encyclopedia | 2026-05-05T11:04:10.701513+00:00 | kb-cron |
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a rare terminal neurodegenerative disease defined by the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. ALS is the most common of the motor neuron diseases. ALS often presents with gradual muscle stiffness, twitches, weakness, and wasting. Motor neuron loss typically continues until the ability to eat, speak, move, and breathe without mechanical support is lost. At least 50% of people with ALS experience significant changes in thinking and behavior, with 15% of individuals going on to develop frontotemporal dementia. An ALS diagnosis is made based on a person's signs and symptoms, with additional testing conducted to rule out other potential causes. Depending on which areas of the body are affected first, ALS may be classified as limb-onset (beginning with weakness in the arms or legs) or bulbar-onset (beginning with difficulty in speaking or swallowing). Respiratory onset occurs in approximately 1–3% of cases. Most cases of ALS (about 90–95%) have no known cause and are known as sporadic ALS. Genetic, autoimmune, and environmental factors are believed to be involved in the onset of ALS. Approximately 5–10% of ALS cases have a known genetic cause and are often linked to a family history of ALS; such cases are known as familial ALS or hereditary ALS. Mutations in the C9orf72 gene are the most common known genetic cause of familial ALS and are also found in a subset of sporadic cases. Four disease-linked genes are responsible for approximately half of all genetic cases. There is no known cure for ALS. The goal of treatment is to slow the disease progression and improve symptoms. FDA-approved treatments that slow the progression of ALS include riluzole and edaravone. Non-invasive ventilation may result in both improved quality and length of life. Mechanical ventilation can prolong survival but does not stop disease progression. A feeding tube may help maintain weight and nutrition. Death is usually caused by respiratory failure. The disease can affect people of any age, but usually starts around the age of 60. The average survival from onset to death is two to four years, though this can vary; about 10% of those affected survive longer than ten years. Descriptions of the disease date back to at least 1824 by Charles Bell. In 1869, the connection between the symptoms and the underlying neurological problems was first described by French neurologist Jean-Martin Charcot, who in 1874 began using the term amyotrophic lateral sclerosis.
== Classification == ALS is a motor neuron disease, which are a group of neurological disorders that selectively affect motor neurons, the cells that control voluntary muscles of the body. Related motor neuron diseases, sometimes characterized as ALS variants rather than distinct entities, include primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), progressive bulbar palsy, pseudobulbar palsy, and monomelic amyotrophy (MMA). As a disease, ALS may be classified in several different ways: by which part of the motor neurons is affected; by the parts of the body first affected; whether it is genetic; and by the age at which it started. Each individual diagnosed with the condition will sit at a unique place at the intersection of these complex and overlapping subtypes, which presents a challenge to diagnosis, understanding, and prognosis.
=== Subtypes of disease ===
ALS can be classified by the types of motor neurons that are affected. To successfully control any voluntary muscle in the body, a signal must be sent from the motor cortex in the brain down the upper motor neuron as it travels down the spinal cord. There, it connects via a synapse to the lower motor neuron, which connects to the muscle itself. Damage to either the upper or lower motor neuron, as it makes its way from the brain to the muscle, causes different types of symptoms. Damage to the upper motor neuron typically causes spasticity including stiffness and increased tendon reflexes or clonus, while damage to the lower motor neuron typically causes weakness, muscle atrophy, and fasciculations. Classical or classic ALS involves degeneration to both the upper motor neurons in the brain and the lower motor neurons in the spinal cord. Primary lateral sclerosis (PLS) involves degeneration of primarily the upper motor neurons, and progressive muscular atrophy (PMA) involves the lower motor neurons primarily. There is debate over whether PLS and PMA are separate diseases or variants of ALS.