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

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 59 publications over 22 distinct years, with a maximum of 5 publications in 1998 and 2007 and 2009

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

Year	Major Topic	Minor Topic	Total
1996	1	0	1
1998	4	1	5
1999	1	0	1
2000	0	1	1
2001	1	0	1
2002	3	0	3
2005	3	1	4
2006	1	0	1
2007	5	0	5
2008	2	0	2
2009	5	0	5
2011	3	1	4
2014	3	0	3
2015	2	0	2
2016	2	0	2
2017	2	0	2
2018	3	0	3
2020	4	0	4
2021	4	0	4
2022	1	0	1
2023	3	0	3
2024	0	2	2

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

Karliner J, Liu Y, Merry DE. Mutant androgen receptor induces neurite loss and senescence independently of ARE binding in a neuronal model of SBMA. Proc Natl Acad Sci U S A. 2024 07 16; 121(29):e2321408121.

View in: PubMed
Ciftci S, Ulusaloglu AC, Shrader MW, Scavina MT, Mackenzie WG, Heinle R, Neal KM, Stall A, Howard JJ. Scoliosis Development in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-Modifying Treatments. J Pediatr Orthop. 2024 Oct 01; 44(9):e789-e794.

View in: PubMed
Ulusaloglu AC, Asma A, Shrader MW, Scavina MT, Mackenzie WG, Erb A, Howard JJ. Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments. J Pediatr Orthop. 2024 Mar 01; 44(3):e226-e231.

View in: PubMed
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.

View in: PubMed
Galbiati M, Meroni M, Boido M, Cescon M, Rusmini P, Crippa V, Cristofani R, Piccolella M, Ferrari V, Tedesco B, Casarotto E, Chierichetti M, Cozzi M, Mina F, Cicardi ME, Pedretti S, Mitro N, Caretto A, Ris? P, Sala A, Lieberman AP, Bonaldo P, Pennuto M, Vercelli A, Poletti A. Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice. Neurotherapeutics. 2023 03; 20(2):524-545.

View in: PubMed
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.

View in: PubMed
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.

View in: PubMed
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).

View in: PubMed
Alhammoud A, Othman Y, El-Hawary R, Mackenzie WG, Howard JJ. The impact of scoliosis surgery on pulmonary function in spinal muscular atrophy: a systematic review. Spine Deform. 2021 07; 9(4):913-921.

View in: PubMed
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.

View in: PubMed

People

Explore

Similar Concepts

Top Journals

The Thomas Jefferson University web site, its contents and programs, is provided for informational and educational purposes only and is not intended as medical advice nor is it intended to create any physician-patient relationship. Please remember that this information should not substitute for a visit or a consultation with a health care provider. The views or opinions expressed in the resources provided do not necessarily reflect those of Thomas Jefferson University, Thomas Jefferson University Hospital, or the Jefferson Health System or staff.
Please read our Privacy Statement