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 15 publications over 9 distinct years, with a maximum of 4 publications in 2022

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

Year	Major Topic	Total
2005	1	1
2011	1	1
2012	1	1
2018	2	2
2020	1	1
2021	2	2
2022	4	4
2023	2	2
2024	1	1

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

Xie Q, Chen X, Ma H, Zhu Y, Ma Y, Jalinous L, Cox GF, Weaver F, Yang J, Kennedy Z, Gruntman A, Du A, Su Q, He R, Tai PW, Gao G, Xie J. Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor. EMBO Mol Med. 2024 Apr; 16(4):945-965.

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Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Proud CM, Shieh PB, Tizzano EF, Quijano-Roy S, Desguerre I, Saito K, Faulkner E, Benguerba KM, Raju D, LaMarca N, Sun R, Anderson FA, Finkel RS. Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. J Neuromuscul Dis. 2024; 11(2):425-442.

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Leon-Astudillo C, Okorie CUA, McCown MY, Dy FJ, Puranik S, Prero M, ElMallah MK, Treat L, Gross JE. ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease. Pediatr Pulmonol. 2023 Jul; 58(7):1866-1874.

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Arbab M, Matuszek Z, Kray KM, Du A, Newby GA, Blatnik AJ, Raguram A, Richter MF, Zhao KT, Levy JM, Shen MW, Arnold WD, Wang D, Xie J, Gao G, Burghes AHM, Liu DR. Base editing rescue of spinal muscular atrophy in cells and in mice. Science. 2023 04 21; 380(6642):eadg6518.

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Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1381-1389.

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Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Wigderson M, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1390-1397.

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Khvorova A. Modulation of DNA transcription: The future of ASO therapeutics? Cell. 2022 06 09; 185(12):2011-2013.

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Flotte TR, Gessler DJ. Gene Therapy for Rare Neurological Disorders. Clin Pharmacol Ther. 2022 04; 111(4):743-757.

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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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Day JW, Mendell JR, Mercuri E, Finkel RS, Strauss KA, Kleyn A, Tauscher-Wisniewski S, Tukov FF, Reyna SP, Chand DH. Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. Drug Saf. 2021 10; 44(10):1109-1119.

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