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ALS

This article is about the neurodegenerative disease. For other uses, see ALS (disambiguation).
"Motor neuron disease" and "Motor neurone disease" redirect here. For a group of muscle-wasting disorders, see Motor neuron diseases.

Amyotrophic lateral sclerosis
Other names
Diagram of a human nervous system highlighting the brain, spinal cord, motor neurons, and muscles of the body affected by ALS
Parts of the nervous system affected by ALS, causing progressive symptoms in skeletal muscles throughout the body[2]
SpecialtyNeurology
SymptomsEarly: Stiff muscles, muscle twitches, gradual increasing weakness[3]
Later: Difficulty in speaking, swallowing, and breathing; respiratory failure;[3] 10–15% experience frontotemporal dementia[2]
ComplicationsFalling (accident); Respiratory failure; Pneumonia; Malnutrition
Usual onset45–75 years[2]
CausesUnknown (about 85%), genetic (about 15%)
Risk factorsGenetic risk factors; age; male sex; heavy metals; organic chemicals; smoking; electric shock; physical exercise; head injury[2]
Diagnostic methodClinical diagnosis of exclusion based on progressive symptoms of upper and lower motor neuron degeneration in which no other explanation can be found. Supportive evidence from electromyography, genetic testing, and neuroimaging
Differential diagnosisMultifocal motor neuropathy, Kennedy's disease, Hereditary spastic paraplegia, Nerve compression syndrome, Diabetic neuropathy, Post-polio syndrome, Myasthenia gravis, Multiple sclerosis[4]
TreatmentWalker (mobility); Wheelchair; Non-invasive ventilation;[5] Feeding tubes; Augmentative and alternative communication; symptomatic management
MedicationRiluzole, Edaravone, Sodium phenylbutyrate/ursodoxicoltaurine, Tofersen, Dextromethorphan/quinidine
PrognosisLife expectancy highly variable but typically 2–4 years after diagnosis[6]
Frequency
  • Incidence: 1.6/100,000 individuals per year[6]
  • Prevalence: 4.4/100,000 living individuals[6]
  • Lifetime risk: 1 in 400 individuals[7]

Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease (LGD) in the United States, is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction.[3] ALS is the most common form of the motor neuron diseases.[8] ALS often presents in its early stages with gradual muscle stiffness, twitches, weakness, and wasting.[3] Motor neuron loss typically continues until the abilities to eat, speak, move, and, lastly, breathe are all lost.[3] While only 15% of people with ALS also fully develop frontotemporal dementia, an estimated 50% face at least some minor difficulties with thinking and behavior.[9] Depending on which of the aforementioned symptoms develops first, ALS is classified as limb-onset (begins with weakness in the arms or legs) or bulbar-onset (begins with difficulty in speaking or swallowing).[10]

Most cases of ALS (about 90–95%) have no known cause, and are known as sporadic ALS.[3][11] However, both genetic and environmental factors are believed to be involved.[12] The remaining 5–10% of cases have a genetic cause, often linked to a family history of the disease, and these are known as familial ALS (hereditary).[6][13] About half of these genetic cases are due to disease-causing variants in one of four specific genes.[14] The diagnosis is based on a person's signs and symptoms, with testing conducted to rule out other potential causes.[3]

There is no known cure for ALS.[3] The goal of treatment is to slow the disease progression, and improve symptoms.[9] FDA-approved treatments that slow the progression of ALS include riluzole and edaravone.[15] Non-invasive ventilation may result in both improved quality and length of life.[5] Mechanical ventilation can prolong survival but does not stop disease progression.[16] A feeding tube may help maintain weight and nutrition.[17] Death is usually caused by respiratory failure.[18] The disease can affect people of any age, but usually starts around the age of 60.[18] The average survival from onset to death is two to four years, though this can vary, and about 10% of those affected survive longer than ten years.[19]

Descriptions of the disease date back to at least 1824 by Charles Bell.[20] 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.[20]

  1. ^ Cite error: The named reference Orphanet2009 was invoked but never defined (see the help page).
  2. ^ a b c d Cite error: The named reference Masrori-2020 was invoked but never defined (see the help page).
  3. ^ a b c d e f g h "Amyotrophic Lateral Sclerosis (ALS) Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 5 January 2017. Retrieved 22 October 2020.
  4. ^ Kwan J, Vullaganti M (September 2022). "Amyotrophic lateral sclerosis mimics". Muscle & Nerve. 66 (3): 240–252. doi:10.1002/mus.27567. PMID 35607838. S2CID 249014375.
  5. ^ a b Hobson EV, McDermott CJ (September 2016). "Supportive and symptomatic management of amyotrophic lateral sclerosis" (PDF). Nature Reviews. Neurology. 12 (9): 526–538. doi:10.1038/nrneurol.2016.111. PMID 27514291. S2CID 8547381. Archived (PDF) from the original on 1 December 2020. Retrieved 20 December 2019.
  6. ^ a b c d Goutman SA, Hardiman O, Al-Chalabi A, Chió A, Savelieff MG, Kiernan MC, et al. (May 2022). "Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis". The Lancet. Neurology. 21 (5): 480–493. doi:10.1016/S1474-4422(21)00465-8. PMC 9513753. PMID 35334233.
  7. ^ Ryan M, Heverin M, McLaughlin RL, Hardiman O (November 2019). "Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis". JAMA Neurology. 76 (11): 1367–1374. doi:10.1001/jamaneurol.2019.2044. PMC 6646974. PMID 31329211.
  8. ^ "Motor Neuron Diseases Fact Sheet". www.ninds.nih.gov. National Institute of Neurological Disorders and Stroke. Archived from the original on 10 October 2020. Retrieved 27 October 2020.
  9. ^ a b van Es MA, Hardiman O, Chio A, Al-Chalabi A, Pasterkamp RJ, Veldink JH, et al. (November 2017). "Amyotrophic lateral sclerosis". Lancet. 390 (10107): 2084–2098. doi:10.1016/S0140-6736(17)31287-4. PMID 28552366. S2CID 24483077.
  10. ^ Hardiman O, Al-Chalabi A, Chio A, Corr EM, Logroscino G, Robberecht W, et al. (October 2017). "Amyotrophic lateral sclerosis" (PDF). Nature Reviews. Disease Primers. 3 (17071): 17071. doi:10.1038/nrdp.2017.71. PMID 28980624. S2CID 1002680. Archived (PDF) from the original on 1 December 2020. Retrieved 20 December 2019.
  11. ^ "Understanding ALS". The ALS Association. Archived from the original on 26 October 2020. Retrieved 28 October 2020.
  12. ^ Wingo TS, Cutler DJ, Yarab N, Kelly CM, Glass JD (2011). "The heritability of amyotrophic lateral sclerosis in a clinically ascertained United States research registry". PLOS ONE. 6 (11): e27985. Bibcode:2011PLoSO...627985W. doi:10.1371/journal.pone.0027985. PMC 3222666. PMID 22132186.
  13. ^ "Amyotrophic lateral sclerosis". MedlinePlus Genetics. Retrieved 7 August 2023.
  14. ^ Cite error: The named reference Goutman-2022 was invoked but never defined (see the help page).
  15. ^ Cite error: The named reference alsa1 was invoked but never defined (see the help page).
  16. ^ Soriani MH, Desnuelle C (May 2017). "Care management in amyotrophic lateral sclerosis". Revue Neurologique. 173 (5): 288–299. doi:10.1016/j.neurol.2017.03.031. PMID 28461024.
  17. ^ Connolly S, Galvin M, Hardiman O (April 2015). "End-of-life management in patients with amyotrophic lateral sclerosis". The Lancet. Neurology. 14 (4): 435–442. doi:10.1016/S1474-4422(14)70221-2. PMID 25728958. S2CID 34109901.
  18. ^ a b Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. (March 2011). "Amyotrophic lateral sclerosis". Lancet. 377 (9769): 942–955. doi:10.1016/s0140-6736(10)61156-7. PMID 21296405.
  19. ^ Pupillo E, Messina P, Logroscino G, Beghi E (February 2014). "Long-term survival in amyotrophic lateral sclerosis: a population-based study". Annals of Neurology. 75 (2): 287–297. doi:10.1002/ana.24096. PMID 24382602. S2CID 205345019.
  20. ^ a b Rowland LP (March 2001). "How amyotrophic lateral sclerosis got its name: the clinical-pathologic genius of Jean-Martin Charcot". Archives of Neurology. 58 (3): 512–515. doi:10.1001/archneur.58.3.512. PMID 11255459.

ALS

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