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Amyotrophic lateral sclerosis type 3(ALS3)

MedGen UID:
339829
Concept ID:
C1847735
Disease or Syndrome
Synonyms: ALS3
 
OMIM®: 606640

Definition

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles. [from GTR]

Additional descriptions

From GeneReviews
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles.  https://www.ncbi.nlm.nih.gov/books/NBK1450
From OMIM
ALS is a degenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure usually within 3 to 5 years of symptom onset (Brown, 1995).  http://www.omim.org/entry/606640
From GHR
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS.The first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals.Approximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD.A rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.  https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis

Recent clinical studies

Etiology

Fattori B, Siciliano G, Mancini V, Bastiani L, Bongioanni P, Caldarazzo Ienco E, Barillari MR, Romeo SO, Nacci A
Auris Nasus Larynx 2017 Jun;44(3):306-312. Epub 2016 Aug 25 doi: 10.1016/j.anl.2016.07.002. PMID: 27569290
Yan J, Xu Y, Zhang L, Zhao H, Jin L, Liu WG, Weng LH, Li ZH, Chen L
Chin Med J (Engl) 2016 Dec 5;129(23):2797-2803. doi: 10.4103/0366-6999.194656. PMID: 27900991Free PMC Article
Battaglia G, Riozzi B, Bucci D, Di Menna L, Molinaro G, Pallottino S, Nicoletti F, Bruno V
Neurobiol Dis 2015 Feb;74:126-36. Epub 2014 Nov 28 doi: 10.1016/j.nbd.2014.11.012. PMID: 25434487
Sanjuán-López P, Valiño-López P, Ricoy-Gabaldón J, Verea-Hernando H
Arch Bronconeumol 2014 Dec;50(12):509-13. Epub 2014 Jun 12 doi: 10.1016/j.arbres.2014.04.010. PMID: 24931271
Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium., Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M
Brain 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366. PMID: 22366794Free PMC Article

Diagnosis

Bergendal B, McAllister A
Acta Odontol Scand 2017 Apr;75(3):179-185. Epub 2017 Jan 12 doi: 10.1080/00016357.2016.1276212. PMID: 28079403
Fujisawa T, Yamaguchi N, Kadowaki H, Tsukamoto Y, Tsuburaya N, Tsubota A, Takahashi H, Naguro I, Takahashi Y, Goto J, Tsuji S, Nishitoh H, Homma K, Ichijo H
Neurobiol Dis 2015 Oct;82:478-486. Epub 2015 Aug 18 doi: 10.1016/j.nbd.2015.08.010. PMID: 26297318
Hanisch F, Skudlarek A, Berndt J, Kornhuber ME
Brain Behav 2015 Mar;5(3):e00296. Epub 2015 Jan 21 doi: 10.1002/brb3.296. PMID: 25642388Free PMC Article
Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis CM, Hardiman O, Heverin M, Howard RS, Huisman MHB, Keren N, Leigh PN, Mazzini L, Mora G, Orrell RW, Rooney J, Scott KM, Scotton WJ, Seelen M, Shaw CE, Sidle KS, Swingler R, Tsuda M, Veldink JH, Visser AE, van den Berg LH, Pearce N
Lancet Neurol 2014 Nov;13(11):1108-1113. Epub 2014 Oct 7 doi: 10.1016/S1474-4422(14)70219-4. PMID: 25300936Free PMC Article
Sanjuán-López P, Valiño-López P, Ricoy-Gabaldón J, Verea-Hernando H
Arch Bronconeumol 2014 Dec;50(12):509-13. Epub 2014 Jun 12 doi: 10.1016/j.arbres.2014.04.010. PMID: 24931271

Therapy

Oliveira AF Filho, Silva GA, Almeida DM
Einstein (Sao Paulo) 2016 Jul-Sep;14(3):431-434. doi: 10.1590/S1679-45082016RB3594. PMID: 27759834Free PMC Article
Fang F, Hållmarker U, James S, Ingre C, Michaëlsson K, Ahlbom A, Feychting M
Eur J Epidemiol 2016 Mar;31(3):247-53. Epub 2015 Jul 29 doi: 10.1007/s10654-015-0077-7. PMID: 26220522
DeLoach A, Cozart M, Kiaei A, Kiaei M
Expert Opin Drug Discov 2015 Oct;10(10):1099-118. Epub 2015 Aug 26 doi: 10.1517/17460441.2015.1067197. PMID: 26307158
Paganoni S, Hyman T, Shui A, Allred P, Harms M, Liu J, Maragakis N, Schoenfeld D, Yu H, Atassi N, Cudkowicz M, Miller TM
Muscle Nerve 2015 Sep;52(3):339-43. Epub 2015 Jun 1 doi: 10.1002/mus.24688. PMID: 25900666Free PMC Article
Coatti GC, Beccari MS, Olávio TR, Mitne-Neto M, Okamoto OK, Zatz M
Cytometry A 2015 Mar;87(3):197-211. Epub 2015 Feb 2 doi: 10.1002/cyto.a.22630. PMID: 25645594

Prognosis

Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S, Iida A, Ikegawa S, Kubo M, Yokoi D, Watanabe H, Ito M, Katsuno M, Izumi Y, Morita M, Kanai K, Taniguchi A, Aiba I, Abe K, Mizoguchi K, Oda M, Kano O, Okamoto K, Kuwabara S, Hasegawa K, Imai T, Kawata A, Aoki M, Tsuji S, Nakashima K, Kaji R, Sobue G
J Neurol Neurosurg Psychiatry 2016 Aug;87(8):851-8. Epub 2016 Jan 8 doi: 10.1136/jnnp-2015-311541. PMID: 26746183
DeLoach A, Cozart M, Kiaei A, Kiaei M
Expert Opin Drug Discov 2015 Oct;10(10):1099-118. Epub 2015 Aug 26 doi: 10.1517/17460441.2015.1067197. PMID: 26307158
Kioumourtzoglou MA, Rotem RS, Seals RM, Gredal O, Hansen J, Weisskopf MG
JAMA Neurol 2015 Aug;72(8):905-11. doi: 10.1001/jamaneurol.2015.0910. PMID: 26030836Free PMC Article
Rechtman L, Jordan H, Wagner L, Horton DK, Kaye W
Amyotroph Lateral Scler Frontotemporal Degener 2015 Mar;16(1-2):65-71. Epub 2014 Dec 8 doi: 10.3109/21678421.2014.971813. PMID: 25482100Free PMC Article
Sanjuán-López P, Valiño-López P, Ricoy-Gabaldón J, Verea-Hernando H
Arch Bronconeumol 2014 Dec;50(12):509-13. Epub 2014 Jun 12 doi: 10.1016/j.arbres.2014.04.010. PMID: 24931271

Clinical prediction guides

Bergendal B, McAllister A
Acta Odontol Scand 2017 Apr;75(3):179-185. Epub 2017 Jan 12 doi: 10.1080/00016357.2016.1276212. PMID: 28079403
Fattori B, Siciliano G, Mancini V, Bastiani L, Bongioanni P, Caldarazzo Ienco E, Barillari MR, Romeo SO, Nacci A
Auris Nasus Larynx 2017 Jun;44(3):306-312. Epub 2016 Aug 25 doi: 10.1016/j.anl.2016.07.002. PMID: 27569290
Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S, Iida A, Ikegawa S, Kubo M, Yokoi D, Watanabe H, Ito M, Katsuno M, Izumi Y, Morita M, Kanai K, Taniguchi A, Aiba I, Abe K, Mizoguchi K, Oda M, Kano O, Okamoto K, Kuwabara S, Hasegawa K, Imai T, Kawata A, Aoki M, Tsuji S, Nakashima K, Kaji R, Sobue G
J Neurol Neurosurg Psychiatry 2016 Aug;87(8):851-8. Epub 2016 Jan 8 doi: 10.1136/jnnp-2015-311541. PMID: 26746183
DeLoach A, Cozart M, Kiaei A, Kiaei M
Expert Opin Drug Discov 2015 Oct;10(10):1099-118. Epub 2015 Aug 26 doi: 10.1517/17460441.2015.1067197. PMID: 26307158
Hanisch F, Skudlarek A, Berndt J, Kornhuber ME
Brain Behav 2015 Mar;5(3):e00296. Epub 2015 Jan 21 doi: 10.1002/brb3.296. PMID: 25642388Free PMC Article

Recent systematic reviews

Ng L, Khan F, Young CA, Galea M
Cochrane Database Syst Rev 2017 Jan 10;1:CD011776. doi: 10.1002/14651858.CD011776.pub2. PMID: 28072907
Abrahao A, Abath Neto O, Kok F, Zanoteli E, Santos B, Pinto WB, Barsottini OG, Oliveira AS, Pedroso JL
J Neurol Sci 2016 Sep 15;368:352-8. Epub 2016 Jul 21 doi: 10.1016/j.jns.2016.07.048. PMID: 27538664
Squires N, Humberstone M, Wills A, Arthur A
Dysphagia 2014 Aug;29(4):500-8. Epub 2014 May 22 doi: 10.1007/s00455-014-9535-8. PMID: 24847964
Young CA, Ellis C, Johnson J, Sathasivam S, Pih N
Cochrane Database Syst Rev 2011 May 11;(5):CD006981. doi: 10.1002/14651858.CD006981.pub2. PMID: 21563158
Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, McLaughlin R, Hardiman O
J Neurol Neurosurg Psychiatry 2011 Jun;82(6):623-7. Epub 2010 Nov 3 doi: 10.1136/jnnp.2010.224501. PMID: 21047878

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