U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
Autosomal recessive inheritance (Orphanet)
 
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:
1856346
•Concept ID:
C5935682
•
Disease or Syndrome
See: Condition Record
Spinal muscular atrophy with microcephaly and mental subnormality

Professional guidelines

PubMed

Investigational therapies for the treatment of spinal muscular atrophy.
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
Splicing of the Survival Motor Neuron genes and implications for treatment of SMA.
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
Prenatal diagnosis of spinal muscular atrophy in Turkish families.
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

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.
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
Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study.
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
Cardiac pathology in spinal muscular atrophy: a systematic review.
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
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
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
Pregnancy and spinal muscular atrophy.
Rudnik-Schöneborn S, Zerres K, Ignatius J, Rietschel M
J Neurol 1992 Jan;239(1):26-30. doi: 10.1007/BF00839207. PMID: 1541965

Diagnosis

A continuous repetitive task to detect fatigability in spinal muscular atrophy.
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
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
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
Fractures in proximal spinal muscular atrophy.
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
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH
Am J Hum Genet 1997 Jun;60(6):1411-22. doi: 10.1086/515465. PMID: 9199562Free PMC Article
Proximal spinal muscular atrophy.
Gross M
J Neurol Neurosurg Psychiatry 1966 Feb;29(1):29-34. doi: 10.1136/jnnp.29.1.29. PMID: 5910575Free PMC Article

Therapy

Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial).
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
Spinal muscular atrophy.
Arnold ES, Fischbeck KH
Handb Clin Neurol 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. PMID: 29478602
Investigational therapies for the treatment of spinal muscular atrophy.
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
Sodium vanadate combined with L-ascorbic acid delays disease progression, enhances motor performance, and ameliorates muscle atrophy and weakness in mice with spinal muscular atrophy.
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
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
Butchbach ME, Singh J, Thorsteinsdóttir M, Saieva L, Slominski E, Thurmond J, Andrésson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME
Hum Mol Genet 2010 Feb 1;19(3):454-67. Epub 2009 Nov 6 doi: 10.1093/hmg/ddp510. PMID: 19897588Free PMC Article

Prognosis

Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3.
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
Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy.
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
Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients.
Fujak A, Raab W, Schuh A, Richter S, Forst R, Forst J
BMC Musculoskelet Disord 2013 Oct 4;14:283. doi: 10.1186/1471-2474-14-283. PMID: 24093531Free PMC Article
Spinal muscular atrophy--clinical and genetic correlations.
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
Pregnancy and spinal muscular atrophy.
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

Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3.
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
Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study.
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
Fractures in proximal spinal muscular atrophy.
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
The role of the SMN gene in proximal spinal muscular atrophy.
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
Clinical study of proximal spinal muscular atrophy. Report on 89 cases.
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

Cardiac pathology in spinal muscular atrophy: a systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...