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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).
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

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K
Eur J Hum Genet 2015 Nov;23(11) Epub 2015 May 20 doi: 10.1038/ejhg.2015.90. PMID: 25990799Free PMC Article
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
Clinical utility gene card for: proximal spinal muscular atrophy.
Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K
Eur J Hum Genet 2012 Jun;20(6) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.62. PMID: 22510849Free PMC Article

Recent clinical studies

Etiology

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
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
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
Deletion analysis in Turkish patients with spinal muscular atrophy.
Erdem H, Pehlivan S, Topaloglu H, Ozgüç M
Brain Dev 1999 Mar;21(2):86-9. doi: 10.1016/s0387-7604(98)00063-1. PMID: 10206524
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

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K
Eur J Hum Genet 2015 Nov;23(11) Epub 2015 May 20 doi: 10.1038/ejhg.2015.90. PMID: 25990799Free PMC Article
Clinical utility gene card for: proximal spinal muscular atrophy.
Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K
Eur J Hum Genet 2012 Jun;20(6) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.62. PMID: 22510849Free PMC Article
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
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy).
Garvie JM, Woolf AL
Br Med J 1966 Jun 11;1(5501):1458-61. doi: 10.1136/bmj.1.5501.1458. PMID: 5933049Free 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
Another step forward for SELEXive splicing.
Buratti E, Baralle FE
Trends Mol Med 2005 Jan;11(1):5-9. doi: 10.1016/j.molmed.2004.11.007. PMID: 15649816
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients.
Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I
J Neurol Sci 1997 Feb 27;146(1):67-72. doi: 10.1016/s0022-510x(96)00284-5. PMID: 9077498

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
Another step forward for SELEXive splicing.
Buratti E, Baralle FE
Trends Mol Med 2005 Jan;11(1):5-9. doi: 10.1016/j.molmed.2004.11.007. PMID: 15649816
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
Another step forward for SELEXive splicing.
Buratti E, Baralle FE
Trends Mol Med 2005 Jan;11(1):5-9. doi: 10.1016/j.molmed.2004.11.007. PMID: 15649816
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
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.
Wirth B, Rudnik-Schöneborn S, Hahnen E, Röhrig D, Zerres K
Prenat Diagn 1995 May;15(5):407-17. doi: 10.1002/pd.1970150503. PMID: 7644431

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

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