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Amyotrophic lateral sclerosis type 7(ALS7)

MedGen UID:
334136
Concept ID:
C1842674
Disease or Syndrome
Synonyms: ALS7; Amyotrophic lateral sclerosis 7
 
OMIM®: 608031

Disease characteristics

Excerpted from the GeneReview: Amyotrophic Lateral Sclerosis Overview
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 GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Lisa Kinsley  |  Teepu Siddique   view full author information

Additional description

From GHR
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that are important for controlling muscle movement and strength. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die over time, leading to problems with muscle control and 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 the condition. 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 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 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 wastes away (atrophies). Individuals with ALS lose their strength and the ability to walk. Affected individuals eventually become wheelchair-dependent. 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 a condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. People with FTD increasingly require help with personal care and other activities of daily living. 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.  http://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis

Recent clinical studies

Etiology

Deidda I, Galizzi G, Passantino R, Cascio C, Russo D, Colletti T, La Bella V, Guarneri P
Eur J Neurol 2014 Mar;21(3):478-85. Epub 2013 Dec 26 doi: 10.1111/ene.12334. [Epub ahead of print] PMID: 24372953
Jones AR, Woollacott I, Shatunov A, Cooper-Knock J, Buchman V, Sproviero W, Smith B, Scott KM, Balendra R, Abel O, McGuffin P, Ellis CM, Shaw PJ, Morrison KE, Farmer A, Lewis CM, Leigh PN, Shaw CE, Powell JF, Al-Chalabi A
Neurobiol Aging 2013 Sep;34(9):2234.e1-7. Epub 2013 Apr 12 doi: 10.1016/j.neurobiolaging.2013.03.003. [Epub ahead of print] PMID: 23587638Free PMC Article
Kano O, Iwamoto K, Ito H, Kawase Y, Cridebring D, Ikeda K, Iwasaki Y
BMC Neurol 2013 Feb 9;13:19. doi: 10.1186/1471-2377-13-19. [Epub ahead of print] PMID: 23394455Free PMC Article
Pupillo E, Messina P, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Micheli A, Millul A, Vitelli E, Beghi E; EURALS Consortium
Eur J Neurol 2012 Dec;19(12):1509-17. Epub 2012 Apr 27 doi: 10.1111/j.1468-1331.2012.03723.x. [Epub ahead of print] PMID: 22537412
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

Kano O, Iwamoto K, Ito H, Kawase Y, Cridebring D, Ikeda K, Iwasaki Y
BMC Neurol 2013 Feb 9;13:19. doi: 10.1186/1471-2377-13-19. [Epub ahead of print] PMID: 23394455Free PMC Article
Troakes C, Hortobágyi T, Vance C, Al-Sarraj S, Rogelj B, Shaw CE
Neuropathol Appl Neurobiol 2013 Aug;39(5):553-61. doi: 10.1111/j.1365-2990.2012.01300.x. PMID: 22934812
Chandrasoma B, Balfe D, Naik T, Elsayegh A, Lewis M, Mosenifar Z
Monaldi Arch Chest Dis 2012 Sep-Dec;77(3-4):129-33. PMID: 23461249
Pupillo E, Messina P, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Micheli A, Millul A, Vitelli E, Beghi E; EURALS Consortium
Eur J Neurol 2012 Dec;19(12):1509-17. Epub 2012 Apr 27 doi: 10.1111/j.1468-1331.2012.03723.x. [Epub ahead of print] PMID: 22537412
Solazzo A, Del Vecchio L, Reginelli A, Monaco L, Sagnelli A, Monsorrò M, Di Martino N, Tedeschi G, Grassi R
Radiol Med 2011 Oct;116(7):1083-94. Epub 2011 Jun 4 doi: 10.1007/s11547-011-0698-1. [Epub ahead of print] PMID: 21643631

Therapy

Sun H, Knippenberg S, Thau N, Ragancokova D, Körner S, Huang D, Dengler R, Döhler K, Petri S
Cell Mol Neurobiol 2013 Apr;33(3):347-57. Epub 2012 Dec 28 doi: 10.1007/s10571-012-9900-9. [Epub ahead of print] PMID: 23271639
Winer L, Srinivasan D, Chun S, Lacomis D, Jaffa M, Fagan A, Holtzman DM, Wancewicz E, Bennett CF, Bowser R, Cudkowicz M, Miller TM
JAMA Neurol 2013 Feb;70(2):201-7. doi: 10.1001/jamaneurol.2013.593. PMID: 23147550Free PMC Article
Yoo YE, Ko CP
PLoS One 2012;7(5):e37258. Epub 2012 May 14 doi: 10.1371/journal.pone.0037258. PMID: 22606355Free PMC Article
Guidubaldi A, Fasano A, Ialongo T, Piano C, Pompili M, Mascianà R, Siciliani L, Sabatelli M, Bentivoglio AR
Mov Disord 2011 Feb 1;26(2):313-9. Epub 2011 Jan 21 doi: 10.1002/mds.23473. [Epub ahead of print] PMID: 21259343
Fang F, Kwee LC, Allen KD, Umbach DM, Ye W, Watson M, Keller J, Oddone EZ, Sandler DP, Schmidt S, Kamel F
Am J Epidemiol 2010 May 15;171(10):1126-33. Epub 2010 Apr 20 doi: 10.1093/aje/kwq063. [Epub ahead of print] PMID: 20406759Free PMC Article

Prognosis

Pugliatti M, Parish LD, Cossu P, Leoni S, Ticca A, Saddi MV, Ortu E, Traccis S, Borghero G, Puddu R, Chiò A, Pirina P
J Neurol 2013 Feb;260(2):572-9. Epub 2012 Sep 30 doi: 10.1007/s00415-012-6681-5. [Epub ahead of print] PMID: 23052600
Troakes C, Hortobágyi T, Vance C, Al-Sarraj S, Rogelj B, Shaw CE
Neuropathol Appl Neurobiol 2013 Aug;39(5):553-61. doi: 10.1111/j.1365-2990.2012.01300.x. PMID: 22934812
Chandrasoma B, Balfe D, Naik T, Elsayegh A, Lewis M, Mosenifar Z
Monaldi Arch Chest Dis 2012 Sep-Dec;77(3-4):129-33. PMID: 23461249
Padhi AK, Kumar H, Vasaikar SV, Jayaram B, Gomes J
PLoS One 2012;7(2):e32479. Epub 2012 Feb 27 doi: 10.1371/journal.pone.0032479. PMID: 22384259Free PMC Article
Fujimura-Kiyono C, Kimura F, Ishida S, Nakajima H, Hosokawa T, Sugino M, Hanafusa T
J Neurol Neurosurg Psychiatry 2011 Nov;82(11):1244-9. Epub 2011 Sep 15 doi: 10.1136/jnnp-2011-300141. [Epub ahead of print] PMID: 21921087

Clinical prediction guides

Kano O, Iwamoto K, Ito H, Kawase Y, Cridebring D, Ikeda K, Iwasaki Y
BMC Neurol 2013 Feb 9;13:19. doi: 10.1186/1471-2377-13-19. [Epub ahead of print] PMID: 23394455Free PMC Article
Troakes C, Hortobágyi T, Vance C, Al-Sarraj S, Rogelj B, Shaw CE
Neuropathol Appl Neurobiol 2013 Aug;39(5):553-61. doi: 10.1111/j.1365-2990.2012.01300.x. PMID: 22934812
Chandrasoma B, Balfe D, Naik T, Elsayegh A, Lewis M, Mosenifar Z
Monaldi Arch Chest Dis 2012 Sep-Dec;77(3-4):129-33. PMID: 23461249
Yoo YE, Ko CP
PLoS One 2012;7(5):e37258. Epub 2012 May 14 doi: 10.1371/journal.pone.0037258. PMID: 22606355Free PMC Article
Solazzo A, Del Vecchio L, Reginelli A, Monaco L, Sagnelli A, Monsorrò M, Di Martino N, Tedeschi G, Grassi R
Radiol Med 2011 Oct;116(7):1083-94. Epub 2011 Jun 4 doi: 10.1007/s11547-011-0698-1. [Epub ahead of print] PMID: 21643631

Recent systematic reviews

Hamidou B, Couratier P, Besançon C, Nicol M, Preux PM, Marin B
Eur J Epidemiol 2014 Jul;29(7):459-75. Epub 2014 Jul 2 doi: 10.1007/s10654-014-9923-2. [Epub ahead of print] PMID: 24986107
Benatar M, Kurent J, Moore DH
Cochrane Database Syst Rev 2009 Jan 21;(1):CD006153. doi: 10.1002/14651858.CD006153.pub2. PMID: 19160266
Ellervik C, Birgens H, Tybjaerg-Hansen A, Nordestgaard BG
Hepatology 2007 Oct;46(4):1071-80. doi: 10.1002/hep.21885. PMID: 17828789

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