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Amyotrophic lateral sclerosis type 7(ALS7)

MedGen UID:
334136
•Concept ID:
C1842674
•
Disease or Syndrome
Synonym: ALS7
SNOMED CT: Amyotrophic lateral sclerosis type 7 (1204349002); ALS7 - amyotrophic lateral sclerosis type 7 (1204349002)
 
Monarch Initiative: MONDO:0011952
OMIM®: 608031

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. Cytogenetic location is 20p13. [from SNOMEDCT_US]

Professional guidelines

PubMed

Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Drug treatment for spinal muscular atrophy types II and III.
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
Drug treatment for spinal muscular atrophy type I.
Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, Vrancken AF
Cochrane Database Syst Rev 2019 Dec 11;12(12):CD006281. doi: 10.1002/14651858.CD006281.pub5. PMID: 31825542Free PMC Article

Curated

Orphanet, Amyotrophic lateral sclerosis, 2007

Recent clinical studies

Therapy

Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial.
Babu S, Nicholson KA, Rothstein JD, Swenson A, Sampognaro PJ, Pant P, Macklin EA, Spruill S, Paganoni S, Gendron TF, Prudencio M, Petrucelli L, Nix D, Landrette S, Nkrumah E, Fandrick K, Edwards J, Young PR
Brain 2024 Sep 3;147(9):2998-3008. doi: 10.1093/brain/awae109. PMID: 38606777
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
Prevalence of pain in amyotrophic lateral sclerosis: a systematic review and meta-analysis.
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

Prognosis

Type 2 diabetes, obesity, and risk of amyotrophic lateral sclerosis: A population-based cohort study.
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
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.
Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614
Hot-spot KIF5A mutations cause familial ALS.
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET
Brain 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. PMID: 29342275Free PMC Article

Clinical prediction guides

TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP.
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
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H
Am J Hum Genet 2023 Jul 6;110(7):1086-1097. Epub 2023 Jun 19 doi: 10.1016/j.ajhg.2023.05.014. PMID: 37339631Free PMC Article
Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.
Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614

Recent systematic reviews

Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
BMC Med 2021 Dec 15;19(1):320. doi: 10.1186/s12916-021-02188-x. PMID: 34906131Free PMC Article
Prevalence of pain in amyotrophic lateral sclerosis: a systematic review and meta-analysis.
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
Burden of Neurological Disorders Across the US From 1990-2017: A Global Burden of Disease Study.
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
Treatment for familial amyotrophic lateral sclerosis/motor neuron disease.
Benatar M, Kurent J, Moore DH
Cochrane Database Syst Rev 2009 Jan 21;2009(1):CD006153. doi: 10.1002/14651858.CD006153.pub2. PMID: 19160266Free PMC Article

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