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Proximal spinal muscular atrophy

MedGen UID:
870510
Concept ID:
C4024957
Disease or Syndrome
Synonyms: proximal spinal muscular atrophy; SMA; Spinal Muscular Atrophy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
HPO: HP:0006959
Monarch Initiative: MONDO:0019079
Orphanet: ORPHA70

Definition

Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Proximal spinal muscular atrophy

Conditions with this feature

Spinal muscular atrophy with microcephaly and mental subnormality
MedGen UID:
341384
Concept ID:
C1849108
Disease or Syndrome

Professional guidelines

PubMed

Kaczmarek A, Schneider S, Wirth B, Riessland M
Expert Opin Investig Drugs 2015;24(7):867-81. Epub 2015 Apr 24 doi: 10.1517/13543784.2015.1038341. PMID: 25911060
Bebee TW, Gladman JT, Chandler DS
Front Biosci (Landmark Ed) 2010 Jun 1;15(3):1191-1204. doi: 10.2741/3670. PMID: 20515750Free PMC Article
Erdem H, Dayangaç D, Pehlivan S, Topaloglu H
Cent Eur J Public Health 2001 Feb;9(1):35-7. PMID: 11243588

Recent clinical studies

Etiology

van Bruggen HW, Wijngaarde CA, Asselman F, Stam M, Creugers NHJ, Wadman RI, van der Pol WL, Kalaykova SI
J Neuromuscul Dis 2024;11(3):655-664. doi: 10.3233/JND-240007. PMID: 38517801Free PMC Article
Pinto WBVR, Souza PVS, Badia BML, Farias IB, Albuquerque Filho JMV, Gonçalves EA, Machado RIL, Oliveira ASB
Arq Neuropsiquiatr 2021 Oct;79(10):912-923. doi: 10.1590/0004-282X-ANP-2020-0429. PMID: 34706022
van der Heul AMB, Cuppen I, Wadman RI, Asselman F, Schoenmakers MAGC, van de Woude DR, Gerrits E, van der Pol WL, van den Engel-Hoek L
J Neuromuscul Dis 2020;7(3):323-330. doi: 10.3233/JND-190465. PMID: 32333596
Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL
Orphanet J Rare Dis 2017 Apr 11;12(1):67. doi: 10.1186/s13023-017-0613-5. PMID: 28399889Free PMC Article
Rudnik-Schöneborn S, Zerres K, Ignatius J, Rietschel M
J Neurol 1992 Jan;239(1):26-30. doi: 10.1007/BF00839207. PMID: 1541965

Diagnosis

Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, Bernard E, Jacquier A, Schaeffer L, Salort-Campana E, Chanson JB, Pakleza AN, Kaminsky AL, Svahn J, Manel V, Bouhour F, Pegat A
Eur J Hum Genet 2024 Jan;32(1):37-43. Epub 2023 Jun 19 doi: 10.1038/s41431-023-01407-8. PMID: 37337091Free PMC Article
Stam M, Wadman RI, Bartels B, Leeuw M, Westeneng HJ, Wijngaarde CA, van den Berg LH, van der Pol WL
Orphanet J Rare Dis 2018 Sep 12;13(1):160. doi: 10.1186/s13023-018-0904-5. PMID: 30208915Free PMC Article
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN
Brain 2015 Feb;138(Pt 2):293-310. Epub 2014 Dec 14 doi: 10.1093/brain/awu356. PMID: 25497877Free PMC Article
Fujak A, Kopschina C, Forst R, Gras F, Mueller LA, Forst J
Arch Orthop Trauma Surg 2010 Jun;130(6):775-80. Epub 2010 Apr 4 doi: 10.1007/s00402-010-1096-1. PMID: 20364429
Gross M
J Neurol Neurosurg Psychiatry 1966 Feb;29(1):29-34. doi: 10.1136/jnnp.29.1.29. PMID: 5910575Free PMC Article

Therapy

Stam M, Wadman RI, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Goedee HS, Habets LE, de Groot JF, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL
BMJ Open 2018 Jul 30;8(7):e019932. doi: 10.1136/bmjopen-2017-019932. PMID: 30061431Free PMC Article
Arnold ES, Fischbeck KH
Handb Clin Neurol 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. PMID: 29478602
Kaczmarek A, Schneider S, Wirth B, Riessland M
Expert Opin Investig Drugs 2015;24(7):867-81. Epub 2015 Apr 24 doi: 10.1517/13543784.2015.1038341. PMID: 25911060
Liu HC, Ting CH, Wen HL, Tsai LK, Hsieh-Li HM, Li H, Lin-Chao S
BMC Med 2013 Feb 14;11:38. doi: 10.1186/1741-7015-11-38. PMID: 23409868Free PMC Article
Buratti E, Baralle FE
Trends Mol Med 2005 Jan;11(1):5-9. doi: 10.1016/j.molmed.2004.11.007. PMID: 15649816

Prognosis

van Bruggen HW, Wijngaarde CA, Asselman F, Stam M, Creugers NHJ, Wadman RI, van der Pol WL, Kalaykova SI
J Neuromuscul Dis 2024;11(3):655-664. doi: 10.3233/JND-240007. PMID: 38517801Free PMC Article
Habets LE, Bartels B, Asselman FL, Hooijmans MT, van den Berg S, Nederveen AJ, van der Pol WL, Jeneson JAL
Brain 2022 May 24;145(4):1422-1435. doi: 10.1093/brain/awab411. PMID: 34788410Free PMC Article
Fujak A, Raab W, Schuh A, Kreß A, Forst R, Forst J
Arch Orthop Trauma Surg 2012 Dec;132(12):1697-706. Epub 2012 Oct 4 doi: 10.1007/s00402-012-1610-8. PMID: 23053190
Zerres K, Wirth B, Rudnik-Schöneborn S
Neuromuscul Disord 1997 May;7(3):202-7. doi: 10.1016/s0960-8966(97)00459-8. PMID: 9185186
Rudnik-Schöneborn S, Zerres K, Ignatius J, Rietschel M
J Neurol 1992 Jan;239(1):26-30. doi: 10.1007/BF00839207. PMID: 1541965

Clinical prediction guides

van Bruggen HW, Wijngaarde CA, Asselman F, Stam M, Creugers NHJ, Wadman RI, van der Pol WL, Kalaykova SI
J Neuromuscul Dis 2024;11(3):655-664. doi: 10.3233/JND-240007. PMID: 38517801Free PMC Article
van der Heul AMB, Cuppen I, Wadman RI, Asselman F, Schoenmakers MAGC, van de Woude DR, Gerrits E, van der Pol WL, van den Engel-Hoek L
J Neuromuscul Dis 2020;7(3):323-330. doi: 10.3233/JND-190465. PMID: 32333596
Fujak A, Kopschina C, Forst R, Gras F, Mueller LA, Forst J
Arch Orthop Trauma Surg 2010 Jun;130(6):775-80. Epub 2010 Apr 4 doi: 10.1007/s00402-010-1096-1. PMID: 20364429
Lefebvre S, Bürglen L, Frézal J, Munnich A, Melki J
Hum Mol Genet 1998;7(10):1531-6. doi: 10.1093/hmg/7.10.1531. PMID: 9735373
Tonali P, Servidei S, Uncini A, Restuccia D, Galluzzi G
Ital J Neurol Sci 1984 Dec;5(4):423-32. doi: 10.1007/BF02042627. PMID: 6530365

Recent systematic reviews

Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL
Orphanet J Rare Dis 2017 Apr 11;12(1):67. doi: 10.1186/s13023-017-0613-5. PMID: 28399889Free PMC Article

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