Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders.
Abstract: Controversy exists as to the prevalence of polysaccharide storage myopathy (PSSM) in breeds of horses and its impact on performance. Objective: To determine 1) the prevalence of PSSM in horses that presented with a neuromuscular disorder, as well as breed, sex and age distributions and clinical signs 2) effect of diagnostic criteria on prevalence, breed distribution and age of horses diagnosed with PSSM. Methods: Fresh frozen biopsies (n = 1426) submitted to the Neuromuscular Diagnostic Laboratory at the University of Minnesota were searched to identify horses diagnosed with PSSM. Horses with and without histological evidence of PSSM were compared. Biopsies were classified as Grade 1, containing aggregates of granular glycogen or Grade 2, containing periodic acid Schiff's (PAS) positive inclusions, traditionally resistant to amylase digestion. Results: Horses (n = 572 : 40.1%) were identified with PSSM, of which 62.9% were Quarter Horse related breeds (QHR), 11.5% Draught breeds (DB) and 8.9% Warmblood breeds (WB). Exertional rhabdomyolysis was more prevalent in QHR than DB and WB, whereas QHR were less likely to have muscle atrophy compared to DB. QHR were less likely to have gait abnormalities than DB and WB. The highest within breed prevalence of PSSM was in DB at 63/116, WB 58/111 and QHR 360/753. Exclusion of Grade 1 criteria decreased the overall prevalence of PSSM to 21.7% of biopsy submissions, and decreased the within breed prevalence in each breed category. The within breed prevalence decreased most substantially in the breeds less commonly diagnosed with PSSM, Thoroughbreds (4.5%) and Arabians (2.5%). Conclusions: PSSM is a common cause of neuromuscular disease in QHR, DB and WB related breeds. Inclusion of granular glycogen as the sole diagnostic criterion may increase the sensitivity of this diagnostic test, but conversely it may decrease the specificity of the diagnosis resulting in the inclusion of horses of Thoroughbred, Arabian and other breeds. Conclusions: PSSM is an important differential diagnosis for QHR, WB and DB presenting with signs of rhabdomyolysis, gait abnormalities and muscle atrophy.
Publication Date: 2007-04-04 PubMed ID: 17402444DOI: 10.1111/j.2042-3306.2006.tb05565.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research investigated how common polysaccharide storage myopathy (PSSM), an equine muscle disease, is in horses with neuromuscular disorders. It considered how the breed, sex, age, and clinical signs of the horse might affect the prevalence of PSSM.
Methodology
- The researchers from the University of Minnesota analyzed 1426 fresh frozen biopsy samples that were submitted to the Neuromuscular Diagnostic Laboratory.
- These samples were used to identify horses diagnosed with PSSM, a condition characterized by abnormal accumulation of glycogen in the muscles, and the results were compared between horses with and without histological evidence of PSSM.
- The biopsies were divided into two categories: Grade 1, which contained clusters of ordinary glycogen, and Grade 2, which contained periodic acid Schiff’s (PAS) positive inclusions, types of molecules typically resistant to amylase digestion.
Results
- Out of the total, 572 horses, or 40.1%, were identified with PSSM. The majority of these were Quarter Horse-related breeds (about 62.9%), followed by Draught breeds (11.5%), and Warmblood breeds (8.9%).
- The occurrence of exertional rhabdomyolysis (muscle damage due to intense exercise) was higher in Quarter Horse-related breeds than in Draught and Warmblood breeds, whereas Quarter Horses were less likely to display muscle atrophy compared to Draught breeds.
- Quarter Horses also displayed fewer gait abnormalities than Draught and Warmblood breeds.
- Eliminating the criteria for Grade 1 biopsies decreased the overall prevalence of PSSM to 21.7% and lowered the disease’s prevalence within each breed category.
- Despite this, the within-breed prevalence declined most significantly in breeds diagnosed less often with PSSM, such as Thoroughbreds (4.5%) and Arabians (2.5%).
Conclusions
- Polysaccharide storage myopathy is a frequent cause of neuromuscular disease, particularly in Quarter Horse-, Draught-, and Warmblood-related breeds.
- The use of granular glycogen as the sole diagnostic criterion may increase the sensitivity of the diagnostic test, but might affect its specificity, possibly including horses of Thoroughbred, Arabian, and other breeds in the diagnosis.
- The findings suggest that PSSM should be considered a significant differential diagnosis for horses displaying signs of rhabdomyolysis, gait abnormalities, and muscle atrophy, especially those from Quarter Horse, Warmblood, and Draught breeds.
Cite This Article
APA
McCue ME, Ribeiro WP, Valberg SJ.
(2007).
Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders.
Equine Vet J Suppl(36), 340-344.
https://doi.org/10.1111/j.2042-3306.2006.tb05565.x Publication
Researcher Affiliations
- Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, 1365 Gortner Avenue, St. Paul, Minnesota 55108, USA.
MeSH Terms
- Age Factors
- Animals
- Biopsy / methods
- Biopsy / veterinary
- Female
- Genetic Predisposition to Disease
- Glycogen Storage Disease / epidemiology
- Glycogen Storage Disease / genetics
- Glycogen Storage Disease / metabolism
- Glycogen Storage Disease / veterinary
- Horse Diseases / epidemiology
- Horse Diseases / genetics
- Horse Diseases / metabolism
- Horses
- Male
- Muscle, Skeletal / metabolism
- Muscle, Skeletal / pathology
- Neuromuscular Diseases / complications
- Neuromuscular Diseases / epidemiology
- Neuromuscular Diseases / genetics
- Neuromuscular Diseases / veterinary
- Physical Conditioning, Animal / physiology
- Polysaccharides / metabolism
- Prevalence
- Rhabdomyolysis / epidemiology
- Rhabdomyolysis / genetics
- Rhabdomyolysis / metabolism
- Rhabdomyolysis / veterinary
- Sex Factors
Citations
This article has been cited 7 times.- Leite RO, Ferreira JF, Araújo CET, Delfiol DJZ, Takahira RK, Borges AS, Oliveira-Filho JP. Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil. Animals (Basel) 2019 Nov 13;9(11).
- Tosi I, Art T, Cassart D, Farnir F, Ceusters J, Serteyn D, Lemieux H, Votion DM. Altered mitochondrial oxidative phosphorylation capacity in horses suffering from polysaccharide storage myopathy. J Bioenerg Biomembr 2018 Oct;50(5):379-390.
- Valberg SJ, McKenzie EC, Eyrich LV, Shivers J, Barnes NE, Finno CJ. Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. Equine Vet J 2016 Sep;48(5):548-56.
- Fritz KL, McCue ME, Valberg SJ, Rendahl AK, Mickelson JR. Genetic mapping of recurrent exertional rhabdomyolysis in a population of North American Thoroughbreds. Anim Genet 2012 Dec;43(6):730-8.
- Isgren CM, Upjohn MM, Fernandez-Fuente M, Massey C, Pollott G, Verheyen KL, Piercy RJ. Epidemiology of exertional rhabdomyolysis susceptibility in standardbred horses reveals associated risk factors and underlying enhanced performance. PLoS One 2010 Jul 14;5(7):e11594.
- Barrey E, Mucher E, Jeansoule N, Larcher T, Guigand L, Herszberg B, Chaffaux S, Guérin G, Mata X, Benech P, Canale M, Alibert O, Maltere P, Gidrol X. Gene expression profiling in equine polysaccharide storage myopathy revealed inflammation, glycogenesis inhibition, hypoxia and mitochondrial dysfunctions. BMC Vet Res 2009 Aug 7;5:29.
- McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR. Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics 2008 May;91(5):458-66.
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