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Amyotrophic lateral sclerosis type 9(ALS9)

MedGen UID:
395629
Concept ID:
C2678468
Disease or Syndrome
Synonyms: ALS9; ANG-Related Amyotrophic Lateral Sclerosis
SNOMED CT: ALS9 - amyotrophic lateral sclerosis type 9 (1204351003); Amyotrophic lateral sclerosis type 9 (1204351003)
 
Gene (location): ANG (14q11.2)
 
Monarch Initiative: MONDO:0012753
OMIM®: 611895

Definition

A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11. [from SNOMEDCT_US]

Clinical features

From HPO
Amyotrophic lateral sclerosis
MedGen UID:
274
Concept ID:
C0002736
Disease or Syndrome
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.\n\nThere 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.\n\nThe 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.\n\nApproximately 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.\n\nA 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.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.

Professional guidelines

PubMed

Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, Vrancken AF
Cochrane Database Syst Rev 2020 Jan 6;1(1):CD006282. doi: 10.1002/14651858.CD006282.pub5. PMID: 32006461Free PMC Article
Hübers A, Hildebrandt V, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Rosenbohm A, Ludolph AC, Dorst J
J Neurol 2016 Feb;263(2):390-395. Epub 2015 Dec 24 doi: 10.1007/s00415-015-7993-z. PMID: 26705123
Rochet JC
Expert Rev Mol Med 2007 Jun 28;9(17):1-34. doi: 10.1017/S1462399407000385. PMID: 17597554

Curated

Orphanet, Amyotrophic lateral sclerosis, 2007

Recent clinical studies

Etiology

Bagyinszky E, Hulme J, An SSA
Cells 2023 Jul 27;12(15) doi: 10.3390/cells12151948. PMID: 37566027Free PMC Article
Young AL, Vogel JW, Robinson JL, McMillan CT, Ossenkoppele R, Wolk DA, Irwin DJ, Elman L, Grossman M, Lee VMY, Lee EB, Hansson O
Brain 2023 Jul 3;146(7):2975-2988. doi: 10.1093/brain/awad145. PMID: 37150879Free PMC Article
Ge YJ, Ou YN, Deng YT, Wu BS, Yang L, Zhang YR, Chen SD, Huang YY, Dong Q, Tan L, Yu JT; International FTD-Genomics Consortium
Biol Psychiatry 2023 May 1;93(9):770-779. Epub 2022 Nov 9 doi: 10.1016/j.biopsych.2022.11.002. PMID: 36759259
Robison R, DiBiase L, Ashley A, McElheny K, Anderson A, Wymer JP, Plowman EK
Dysphagia 2022 Jun;37(3):644-654. Epub 2021 May 26 doi: 10.1007/s00455-021-10315-2. PMID: 34037850Free PMC Article
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

Diagnosis

Arseni D, Chen R, Murzin AG, Peak-Chew SY, Garringer HJ, Newell KL, Kametani F, Robinson AC, Vidal R, Ghetti B, Hasegawa M, Ryskeldi-Falcon B
Nature 2023 Aug;620(7975):898-903. Epub 2023 Aug 2 doi: 10.1038/s41586-023-06405-w. PMID: 37532939Free PMC Article
Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL
Sci Adv 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. PMID: 37146135Free PMC Article
Ge YJ, Ou YN, Deng YT, Wu BS, Yang L, Zhang YR, Chen SD, Huang YY, Dong Q, Tan L, Yu JT; International FTD-Genomics Consortium
Biol Psychiatry 2023 May 1;93(9):770-779. Epub 2022 Nov 9 doi: 10.1016/j.biopsych.2022.11.002. PMID: 36759259
GBD 2017 US Neurological Disorders Collaborators, Feigin VL, Vos T, Alahdab F, Amit AML, Bärnighausen TW, Beghi E, Beheshti M, Chavan PP, Criqui MH, Desai R, Dhamminda Dharmaratne S, Dorsey ER, Wilder Eagan A, Elgendy IY, Filip I, Giampaoli S, Giussani G, Hafezi-Nejad N, Hole MK, Ikeda T, Owens Johnson C, Kalani R, Khatab K, Khubchandani J, Kim D, Koroshetz WJ, Krishnamoorthy V, Krishnamurthi RV, Liu X, Lo WD, Logroscino G, Mensah GA, Miller TR, Mohammed S, Mokdad AH, Moradi-Lakeh M, Morrison SD, Shivamurthy VKN, Naghavi M, Nichols E, Norrving B, Odell CM, Pupillo E, Radfar A, Roth GA, Shafieesabet A, Sheikh A, Sheikhbahaei S, Shin JI, Singh JA, Steiner TJ, Stovner LJ, Wallin MT, Weiss J, Wu C, Zunt JR, Adelson JD, Murray CJL
JAMA Neurol 2021 Feb 1;78(2):165-176. doi: 10.1001/jamaneurol.2020.4152. PMID: 33136137Free PMC Article
Conway O, Akpinar HA, Rogov VV, Kirkin V
J Mol Biol 2020 Apr 3;432(8):2483-2509. Epub 2019 Oct 22 doi: 10.1016/j.jmb.2019.10.013. PMID: 31654670

Therapy

Arslan D, Inan B, Kilinc M, Bekircan-Kurt CE, Erdem-Ozdamar S, Tan E
Neurol Sci 2023 Jul;44(7):2393-2400. Epub 2023 Mar 1 doi: 10.1007/s10072-023-06698-9. PMID: 36854931
Ge YJ, Ou YN, Deng YT, Wu BS, Yang L, Zhang YR, Chen SD, Huang YY, Dong Q, Tan L, Yu JT; International FTD-Genomics Consortium
Biol Psychiatry 2023 May 1;93(9):770-779. Epub 2022 Nov 9 doi: 10.1016/j.biopsych.2022.11.002. PMID: 36759259
Chen H, Zhang J, Wang T, Zhang S, Lai Q, Huang S, Zeng P
J Clin Endocrinol Metab 2021 Oct 21;106(11):e4497-e4508. doi: 10.1210/clinem/dgab465. PMID: 34171091
Hurwitz N, Radakovic R, Boyce E, Peryer G
Amyotroph Lateral Scler Frontotemporal Degener 2021 Nov;22(7-8):449-458. Epub 2021 Mar 4 doi: 10.1080/21678421.2021.1892765. PMID: 33661072
Buzhor E, Leshansky L, Blumenthal J, Barash H, Warshawsky D, Mazor Y, Shtrichman R
Regen Med 2014;9(5):649-72. doi: 10.2217/rme.14.35. PMID: 25372080

Prognosis

Bagyinszky E, Hulme J, An SSA
Cells 2023 Jul 27;12(15) doi: 10.3390/cells12151948. PMID: 37566027Free PMC Article
Chiò A, Moglia C, Canosa A, Manera U, Grassano M, Vasta R, Palumbo F, Gallone S, Brunetti M, Barberis M, De Marchi F, Dalgard C, Chia R, Mora G, Iazzolino B, Peotta L, Traynor BJ, Corrado L, D'Alfonso S, Mazzini L, Calvo A
Neurology 2023 Jul 4;101(1):e83-e93. Epub 2023 May 18 doi: 10.1212/WNL.0000000000207367. PMID: 37202167Free PMC Article
Skajaa N, Riahi EB, Szépligeti SK, Horváth-Puhó E, Sørensen TT, Henderson VW, Sørensen HT
Brain Behav 2023 Jun;13(6):e3007. Epub 2023 Apr 19 doi: 10.1002/brb3.3007. PMID: 37073502Free PMC Article
Masuda M, Watanabe H, Ogura A, Ohdake R, Kato T, Kawabata K, Hara K, Nakamura R, Atsuta N, Epifanio B, Katsuno M, Sobue G
Amyotroph Lateral Scler Frontotemporal Degener 2021 May;22(3-4):260-266. doi: 10.1080/21678421.2020.1859544. PMID: 33908332
Delprat B, Maurice T, Delettre C
Cell Death Dis 2018 Mar 6;9(3):364. doi: 10.1038/s41419-018-0406-3. PMID: 29511163Free PMC Article

Clinical prediction guides

Held A, Adler M, Marques C, Reyes CJ, Kavuturu AS, Quadros ARAA, Ndayambaje IS, Lara E, Ward M, Lagier-Tourenne C, Wainger BJ
Cell Rep 2023 Sep 26;42(9):113046. Epub 2023 Aug 30 doi: 10.1016/j.celrep.2023.113046. PMID: 37651231Free PMC Article
Arseni D, Chen R, Murzin AG, Peak-Chew SY, Garringer HJ, Newell KL, Kametani F, Robinson AC, Vidal R, Ghetti B, Hasegawa M, Ryskeldi-Falcon B
Nature 2023 Aug;620(7975):898-903. Epub 2023 Aug 2 doi: 10.1038/s41586-023-06405-w. PMID: 37532939Free PMC Article
Robison R, DiBiase L, Ashley A, McElheny K, Anderson A, Wymer JP, Plowman EK
Dysphagia 2022 Jun;37(3):644-654. Epub 2021 May 26 doi: 10.1007/s00455-021-10315-2. PMID: 34037850Free PMC Article
Conway O, Akpinar HA, Rogov VV, Kirkin V
J Mol Biol 2020 Apr 3;432(8):2483-2509. Epub 2019 Oct 22 doi: 10.1016/j.jmb.2019.10.013. PMID: 31654670
Janikiewicz J, Szymański J, Malinska D, Patalas-Krawczyk P, Michalska B, Duszyński J, Giorgi C, Bonora M, Dobrzyn A, Wieckowski MR
Cell Death Dis 2018 Feb 28;9(3):332. doi: 10.1038/s41419-017-0105-5. PMID: 29491385Free PMC Article

Recent systematic reviews

Ramos-Martínez E, Ramos-Martínez I, Sánchez-Betancourt I, Ramos-Martínez JC, Peña-Corona SI, Valencia J, Saucedo R, Almeida-Aguirre EKP, Cerbón M
Biomolecules 2022 Jul 31;12(8) doi: 10.3390/biom12081062. PMID: 36008956Free PMC Article
Hurwitz N, Radakovic R, Boyce E, Peryer G
Amyotroph Lateral Scler Frontotemporal Degener 2021 Nov;22(7-8):449-458. Epub 2021 Mar 4 doi: 10.1080/21678421.2021.1892765. PMID: 33661072
GBD 2017 US Neurological Disorders Collaborators, Feigin VL, Vos T, Alahdab F, Amit AML, Bärnighausen TW, Beghi E, Beheshti M, Chavan PP, Criqui MH, Desai R, Dhamminda Dharmaratne S, Dorsey ER, Wilder Eagan A, Elgendy IY, Filip I, Giampaoli S, Giussani G, Hafezi-Nejad N, Hole MK, Ikeda T, Owens Johnson C, Kalani R, Khatab K, Khubchandani J, Kim D, Koroshetz WJ, Krishnamoorthy V, Krishnamurthi RV, Liu X, Lo WD, Logroscino G, Mensah GA, Miller TR, Mohammed S, Mokdad AH, Moradi-Lakeh M, Morrison SD, Shivamurthy VKN, Naghavi M, Nichols E, Norrving B, Odell CM, Pupillo E, Radfar A, Roth GA, Shafieesabet A, Sheikh A, Sheikhbahaei S, Shin JI, Singh JA, Steiner TJ, Stovner LJ, Wallin MT, Weiss J, Wu C, Zunt JR, Adelson JD, Murray CJL
JAMA Neurol 2021 Feb 1;78(2):165-176. doi: 10.1001/jamaneurol.2020.4152. PMID: 33136137Free PMC Article
Long C, Amoasii L, Bassel-Duby R, Olson EN
JAMA Neurol 2016 Nov 1;73(11):1349-1355. doi: 10.1001/jamaneurol.2016.3388. PMID: 27668807Free PMC Article
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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