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American journal of veterinary research2017; 78(11); 1305-1312; doi: 10.2460/ajvr.78.11.1305

Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy.

Abstract: OBJECTIVE To characterize clinical findings for polysaccharide storage myopathy (PSSM) in warmblood horses with type 1 PSSM (PSSM1; caused by mutation of the glycogen synthase 1 gene) and type 2 PSSM (PSSM2; unknown etiology). SAMPLE Database with 3,615 clinical muscle biopsy submissions. PROCEDURES Reported clinical signs and serum creatine kinase (CK) and aspartate aminotransferase (AST) activities were retrospectively analyzed for horses with PSSM1 (16 warmblood and 430 nonwarmblood), horses with PSSM2 (188 warmblood and 646 nonwarmblood), and warmblood horses without PSSM (278). Lameness examinations were reviewed for 9 warmblood horses with PSSM2. Muscle glycogen concentrations were evaluated for horses with PSSM1 (14 warmblood and 6 nonwarmblood), warmblood horses with PSSM2 (13), and horses without PSSM (10 warmblood and 6 nonwarmblood). RESULTS Rhabdomyolysis was more common for horses with PSSM1 (12/16 [75%] warmblood and 223/303 [74%] nonwarmblood) and nonwarmblood horses with PSSM2 (221/436 [51%]) than for warmblood horses with PSSM2 (39/147 [27%]). Gait abnormality was more common in warmblood horses with PSSM2 (97/147 [66%]) than in warmblood horses with PSSM1 (1/16 [7%]), nonwarmblood horses with PSSM2 (176/436 [40%]), and warmblood horses without PSSM (106/200 [53%]). Activities of CK and AST were similar in warmblood horses with and without PSSM2. Muscle glycogen concentrations in warmblood and nonwarmblood horses with PSSM1 were significantly higher than concentrations in warmblood horses with PSSM2. CONCLUSIONS AND CLINICIAL RELEVANCE Rhabdomyolysis and elevated muscle glycogen concentration were detected in horses with PSSM1 regardless of breed. Most warmblood horses with PSSM2 had stiffness and gait abnormalities with CK and AST activities and muscle glycogen concentrations within reference limits.
Publication Date: 2017-10-28 PubMed ID: 29076373DOI: 10.2460/ajvr.78.11.1305Google Scholar: Lookup
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  • Journal Article

Summary

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This research investigates the clinical characteristics and muscle glycogen concentrations in warmblood horses affected by two types of polysaccharide storage myopathy (PSSM1 and PSSM2). The study reveals rhabdomyolysis and elevated muscle glycogen concentrations in PSSM1 horses of all breeds, while most PSSM2 warmblood horses experienced stiffness and gait abnormalities with regular enzyme activities and muscle glycogen concentrations.

Methodology

  • The researchers collected data from a database containing 3,615 clinical muscle biopsy submissions.
  • The clinical signs and serum creatine kinase (CK) and aspartate aminotransferase (AST) activities were retrospectively analyzed for horses with PSSM1 and PSSM2.
  • Lameness examinations were reviewed for 9 warmblood horses with PSSM2.
  • Muscle glycogen concentrations were evaluated for horses with PSSM1, warmblood horses with PSSM2, and horses without PSSM.

Results

  • Rhabdomyolysis occurred more frequently in horses with PSSM1 and non-warmblood horses with PSSM2 than in warmblood horses with PSSM2.
  • Gait abnormalities were more prevalent in warmblood horses with PSSM2 than in warmblood horses with PSSM1, non-warmblood horses with PSSM2, and warmblood horses without PSSM.
  • Activities of CK and AST were similar in warmblood horses with and without PSSM2.
  • Muscle glycogen concentrations in warmblood and non-warmblood horses with PSSM1 were significantly higher than in warmblood horses with PSSM2.

Conclusions

  • Rhabdomyolysis and increased muscle glycogen concentration were observed in horses with PSSM1 across all breeds.
  • Most warmblood horses with PSSM2 displayed stiffness and gait abnormalities, yet had normal CK and AST activities and muscle glycogen concentrations.
  • This indicates that different types of PSSM may result in varying clinical manifestations, and further research is needed to fully understand this complex equine disease.

Cite This Article

APA
Lewis SS, Nicholson AM, Williams ZJ, Valberg SJ. (2017). Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy. Am J Vet Res, 78(11), 1305-1312. https://doi.org/10.2460/ajvr.78.11.1305

Publication

ISSN: 1943-5681
NlmUniqueID: 0375011
Country: United States
Language: English
Volume: 78
Issue: 11
Pages: 1305-1312

Researcher Affiliations

Lewis, Susannah S
    Nicholson, Anne M
      Williams, Zoë J
        Valberg, Stephanie J

          MeSH Terms

          • Animals
          • Biopsy / veterinary
          • Female
          • Glycogen
          • Glycogen Storage Disease Type I / physiopathology
          • Glycogen Storage Disease Type I / veterinary
          • Glycogen Storage Disease Type II / physiopathology
          • Glycogen Storage Disease Type II / veterinary
          • Glycogen Synthase / genetics
          • Horse Diseases / metabolism
          • Horse Diseases / pathology
          • Horse Diseases / physiopathology
          • Horses
          • Male
          • Muscular Diseases / metabolism
          • Muscular Diseases / pathology
          • Muscular Diseases / physiopathology
          • Muscular Diseases / veterinary
          • Mutation
          • Polysaccharides
          • Retrospective Studies
          • Rhabdomyolysis / pathology
          • Rhabdomyolysis / veterinary

          Citations

          This article has been cited 6 times.
          1. Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL. Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests. Equine Vet J 2023 Mar;55(2):230-238.
            doi: 10.1111/evj.13574pubmed: 35288976google scholar: lookup
          2. Valberg SJ, Finno CJ, Henry ML, Schott M, Velez-Irizarry D, Peng S, McKenzie EC, Petersen JL. Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis. Equine Vet J 2021 Jul;53(4):690-700.
            doi: 10.1111/evj.13345pubmed: 32896939google scholar: lookup
          3. Williams ZJ, Velez-Irizarry D, Petersen JL, Ochala J, Finno CJ, Valberg SJ. Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy. Equine Vet J 2021 Mar;53(2):306-315.
            doi: 10.1111/evj.13286pubmed: 32453872google scholar: lookup
          4. Ablondi M, Eriksson S, Tetu S, Sabbioni A, Viklund Å, Mikko S. Genomic Divergence in Swedish Warmblood Horses Selected for Equestrian Disciplines. Genes (Basel) 2019 Nov 27;10(12).
            doi: 10.3390/genes10120976pubmed: 31783652google scholar: lookup
          5. Williams ZJ, Bertels M, Valberg SJ. Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy. PLoS One 2018;13(9):e0203467.
            doi: 10.1371/journal.pone.0203467pubmed: 30183782google scholar: lookup
          6. Valberg SJ, Nicholson AM, Lewis SS, Reardon RA, Finno CJ. Clinical and histopathological features of myofibrillar myopathy in Warmblood horses. Equine Vet J 2017 Nov;49(6):739-745.
            doi: 10.1111/evj.12702pubmed: 28543538google scholar: lookup