Muscular Atrophy, Spinal

"Muscular Atrophy, Spinal" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

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A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)

Descriptor ID	D009134
MeSH Number(s)	C10.228.854.468 C10.574.562.500 C10.668.467.500
Concept/Terms	Muscular Atrophy, Spinal Muscular Atrophy, Spinal Atrophy, Spinal Muscular Spinal Amyotrophy Amyotrophies, Spinal Amyotrophy, Spinal Spinal Amyotrophies Spinal Muscular Atrophy Distal Spinal Muscular Atrophy Distal Spinal Muscular Atrophy Spinal Muscular Atrophy, Distal Hereditary Motor Neuronopathy Hereditary Motor Neuronopathy Hereditary Motor Neuronopathies Motor Neuronopathies, Hereditary Motor Neuronopathy, Hereditary Neuronopathies, Hereditary Motor Neuronopathy, Hereditary Motor Scapuloperoneal Form of Spinal Muscular Atrophy Scapuloperoneal Form of Spinal Muscular Atrophy Spinal Muscular Atrophy, Scapuloperoneal Form Spinal Muscular Atrophy, Scapuloperoneal Amyotrophy, Neurogenic Scapuloperoneal, New England Type Scapuloperoneal Spinal Muscular Atrophy Oculopharyngeal Spinal Muscular Atrophy Oculopharyngeal Spinal Muscular Atrophy Spinal Muscular Atrophy, Oculopharyngeal Progressive Muscular Atrophy Progressive Muscular Atrophy Atrophies, Progressive Muscular Atrophy, Progressive Muscular Muscular Atrophies, Progressive Muscular Atrophy, Progressive Progressive Muscular Atrophies Progressive Myelopathic Muscular Atrophy Myelopathic Muscular Atrophy, Progressive Progressive Proximal Myelopathic Muscular Atrophy Progressive Proximal Myelopathic Muscular Atrophy Proximal Myelopathic Muscular Atrophy, Progressive Bulbospinal Neuronopathy Bulbospinal Neuronopathy Bulbospinal Neuronopathies Neuronopathies, Bulbospinal Neuronopathy, Bulbospinal Myelopathic Muscular Atrophy Myelopathic Muscular Atrophy Atrophy, Myelopathic Muscular Muscular Atrophy, Myelopathic Adult-Onset Spinal Muscular Atrophy Adult Onset Spinal Muscular Atrophy Muscular Atrophy, Adult Spinal Adult Spinal Muscular Atrophy

Below are MeSH descriptors whose meaning is more general than "Muscular Atrophy, Spinal".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Spinal Cord Diseases [C10.228.854]
Muscular Atrophy, Spinal [C10.228.854.468]
Neurodegenerative Diseases [C10.574]
Motor Neuron Disease [C10.574.562]
Muscular Atrophy, Spinal [C10.574.562.500]
Neuromuscular Diseases [C10.668]
Motor Neuron Disease [C10.668.467]
Muscular Atrophy, Spinal [C10.668.467.500]

Below are MeSH descriptors whose meaning is related to "Muscular Atrophy, Spinal".

Below are MeSH descriptors whose meaning is more specific than "Muscular Atrophy, Spinal".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Muscular Atrophy, Spinal" by people in this website by year, and whether "Muscular Atrophy, Spinal" was a major or minor topic of these publications.

Bar chart showing 43 publications over 17 distinct years, with a maximum of 5 publications in 2007 and 2009

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1998	1	0	1
2002	2	0	2
2005	3	1	4
2006	1	0	1
2007	5	0	5
2008	2	0	2
2009	5	0	5
2011	3	0	3
2014	2	0	2
2015	2	0	2
2016	2	0	2
2017	2	0	2
2018	3	0	3
2020	4	0	4
2021	3	0	3
2022	1	0	1
2023	1	0	1

Below are the most recent publications written about "Muscular Atrophy, Spinal" by people in Profiles.

Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER. Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy. Sci Rep. 2023 06 26; 13(1):10374.

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Kanda S, Moulton E, Butchbach MER. Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression. Mol Pharmacol. 2022 08; 102(2):92-105.

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Carson VJ, Young M, Brigatti KW, Robinson DL, Reed RM, Sohn J, Petrillo M, Farwell W, Miller F, Strauss KA. Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy. Muscle Nerve. 2022 01; 65(1):51-59.

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Butchbach MER. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int J Mol Sci. 2021 Jul 23; 22(15).

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Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics. 2021 03; 22(1):53-64.

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Sergott RC, Amorelli GM, Baranello G, Barreau E, Beres S, Kane S, Mercuri E, Orazi L, SantaMaria M, Tremolada G, Santarsiero D, Waskowska A, Yashiro S, Denk N, F?rst-Recktenwald S, Gerber M, Gorni K, Jaber B, Jacobsen B, Mueller L, Nave S, Scalco RS, Marzoli SB. Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. Ann Clin Transl Neurol. 2021 01; 8(1):54-65.

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Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P. Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Sci Rep. 2020 11 16; 10(1):19892.

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Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777.

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Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ, Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 2020 05; 22(5):945-953.

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Strauss KA, Carson VJ, Brigatti KW, Young M, Robinson DL, Hendrickson C, Fox MD, Reed RM, Puffenberger EG, Mackenzie W, Miller F. Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy. J Pediatr Orthop. 2018 Nov/Dec; 38(10):e610-e617.

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