Equine metabolic myopathies with emphasis on the diagnostic approach comparison with human myopathies a review

Veterinary Quarterly

Volumn 29, Issue 2, 2007, Pages 42-59

  Westermann, C M ^a   Dorland, L ^b   Wijnberg, I D ^a   van der Kolk, J H ^a  

^a UTRECHT UNIVERSITY   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Comparative study; Diagnostics; Equine diseases; Horses; Humans; Metabolic myopathies; Muscular diseases

Indexed keywords

ACYLCARNITINE; AMMONIA; CARBOXYLIC ACID; CREATINE KINASE; FATTY ACID; GLUCOSE; LACTIC ACID; MYOGLOBIN; URIC ACID;

BLOOD ANALYSIS; CHANNELOPATHY; CLINICAL ASSESSMENT; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIET RESTRICTION; DISORDERS OF CARBOHYDRATE METABOLISM; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; ECHOGRAPHY; ELECTROLYTE METABOLISM; ELECTROMYOGRAPHY; ELECTROSPRAY MASS SPECTROMETRY; ENERGY METABOLISM; ENZYME ASSAY; EXERCISE TEST; GAS CHROMATOGRAPHY; GENOTYPE; HORSE DISEASE; HUMAN; HUMAN VERSUS ANIMAL COMPARISON; LABORATORY TEST; MASS SPECTROMETRY; METABOLIC DISORDER; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE FUNCTION; MYOPATHY; NERVE FUNCTION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; REVIEW; SCINTIGRAPHY; SYMPTOMATOLOGY; URINALYSIS;

ANIMALS; HORSE DISEASES; HORSES; HUMANS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; SPECIES SPECIFICITY;

EQUIDAE;

EID: 34447297338     PISSN: 01652176     EISSN: 18755941     Source Type: Journal    
DOI: 10.1080/01652176.2007.9695227     Document Type: Review

References (77)

1. Aleman M, Riehl J, Aldridge BM, Lecouteur RA, Stoll JL and Pessah IN. Association of a mutation in the ryanodine receptor I gene with equine malignant hyperthermia. Muscle & Nerve 2004: 30: 356–365.
2. Amato AA. Acid maltase deficiency and related myopathies. Neurologic Clinics 2000: 18: 151–165.
3. Andrews FM, Spurgeon TL and Reed SM. Histochemical changes in skeletal muscles of four male horses with neuromuscular disease. American Journal of Veterinary Research 1986: 47: 2078–2083.
4. Angelini C. Defects of fatty-acid oxidation in muscle. Baillieres Clinical Endocrinology and Metabolism 1990: 4: 561–582.
5. Argov Z and Arnold DL. MR spectroscopy and imaging in metabolic myopathies. Neurologic Clinics 2000: 18: 35–52.
6. Bain FT and Merritt AM. Decreased erythrocyte potassium concentration associated with exercise-related myopathy in horses. Journal of the American Veterinary Medical Association 1990: 196: 1259–1261.
7. Beech J. Equine muscle disorders 1: Chronic intermittent rhabdomyolysis. Equine Veterinary Education 2000: 12: 210–213.
8. Beech J. Equine muscle disorders 2. Equine Veterinary Education 2000: 12: 281–286.
9. Bowling AT, Byms G and Spier S. Evidence for a single pedigree source of the hyperkalemic periodic paralysis susceptibility gene in Quarter horses. Animal Genetics 1996: 27: 279–281.
10. Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscular Disorders 2002: 12: 533–543.
11. Cardinet GH 3rd and Holliday TA. Neuromuscular diseases of domestic animals: a summary of muscle biopsies from 159 cases. Annals of the New York Academy of Sciences 1979: 317: 290–313.
12. Carr EA, Spier SJ, Kortz GD and Hoffman EP. Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis. Journal of the American Veterinary Medical Association 1996: 209: 798–803.
13. Carreras MC, Franco MC, Peralta JG and Poderosso JG. Nitric oxide, complex I, and the modulation of mitochondrial reactive species in biology and disease. Molecular Aspects of Medicine 2004: 25: 125–139.
14. Collinder E, Lindholm A and Rasmuson M. Genetic Markers in standardbred trotters susceptible to the rhabdomyolysis syndrome. Equine Veterinary Journal 1997: 29: 117–120.
15. Cwik VA. Disorders of lipid metabolism in skeletal muscle. Neurologic Clinics 2000: 18: 167–184.
16. De La Corte FD, Valberg SJ, MacLeay JM, Williamson SE and Mickelson JR. Glucose uptake in horses with polysaccharide storage myopathy. American Journal of Veterinary Research 1999: 60: 458–462.
17. Firshman AM. Valberg SJ. Karges TL, Benedict LE, Annandale EJ and Seaquist ER. Serum creatine kinase response to exercise during dexamethasone-induced insulin resistance in Quarter Horses with polysaccharide storage myopadiy. American Journal of Veterinary Research 2005: 66: 1718–1723.
18. Foster CV and Harris RC. Total carnitine content of the middle gluteal muscle of thoroughbred horses: normal values, variability and effect of acute exercise. Equine Veterinary Journal 1992: 24: 52–57.
19. Guis S, Mattei JP. Cozzone PJ and Bendalian D. Pathophysiology and clinical presentations of rhabdomyolysis. Joint Bone Spine 2005: 72: 382–391.
20. Gutmann L. Periodic paralyses. Neurologic Clinics 2000 18: 195–202.
21. Harris PA. An outbreak of the equine rhabdomyolysis syndrome in a racing yard. Veterinary Record 1990- 127 468–470.
22. Hinchcliff K, Kaneps AJ and Geor RJ. Equine sports medicine and surgery. Saunders, Londen. 2004.
23. Hodgson DR. Energy considerations during exercise. Veterinary Clinics of North America: Equine Practice 1985: 1: 447–460.
24. Holmgren N and Valberg S. Measurement of serum myoglobin concentrations in horses by immunodiffusion. American Journal of Veterinary Research 1992- 53957–960.
25. Jamison JM, Baird JD, Smith-Maxie LL and Hulland TJ. A congenital form of myotonia with dystrophic changes in a quarterhorse. Equine Veterinary Journal 1987- 19 353–358.
26. Lacombe VA, Hinchcliff KW, Geor RJ and Baskin CR. Muscle glycogen depletion and subsequent replenishment affect anaerobic capacity of horses. Journal of Applied Physiology 2001: 91: 1782–1790.
27. Ledwith A and McGowan C. Muscle biopsy: a routine diagnostic procedure. Equine Veterinary Education 2004 16: 62-67.’
28. Lentz LR, Valberg SJ, Balog EM, Mickelson JR and Gallant EM. Abnormal regulation of muscle contraction in horses with recurrent exertional rhabdomyolysis. American Journal of Veterinary Research 1999- 60 992–999.
29. Lentz LR, Valberg SJ, Herold LV, Onan GW, Mickelson JR and Gallant EM. Myoplasmic calcium regulation in myotubes from horses with recurrent exertional rhabdomyolysis. American Journal of Veterinary Research 2002: 63: 1724–1731.
30. Lentz LR, Valberg SJ, Mickelson JR and Gallant EM. In vitro contractile responses and contracture testing of skeletal muscle from Quarter Horses with exertional rhabdomyolysis. American Journal of Veterinary Research 1999: 60: 684–688.
31. McGowan CM, Menzies-Gow NJ. McDiarmid AM and Patterson-Kane JC. Four cases of equine polysaccharide storage myopathy in the United Kingdom. Veterinary Record 2003: 152: 109–112.
32. Meyer TS, Fedde MR, Cox JH and Erickson HH. Hyperkalaemic periodic paralysis in horses: a review. Equine Veterinary Journal 1999: 31: 362–367.
33. Montagna P, Liguori R, Monari L, Strong PN, Riva R, Di Stasi V, Gandini G and Cipone M. Equine muscular dystrophy with myotonia. Clinical Neurophysioly 2001 112: 294–299.
34. Muylle E, Van den Hende C, Nuytten J, Deprez P, Vlaminck K and Oyaert W. Potassium concentration in equine red blood cells: normal values and correlation with potassium levels in plasma. Equine Veterinary Journal 1984: 16: 447–449.
35. Naylor JM. Equine hyperkalemic periodic paralysis: review and implications. Canadian Veterinary Journal 1994: 35: 279–285.
36. Nollet H and Deprez P. Hereditary skeletal muscle diseases in the horse. A review. Veterinary Quarterly 2005: 27: 65–75.
37. Perkins G, Valberg SJ, Madigan JM, Carlson P and Jones SL. Electrolyte disturbances in foals with severe rhabdomyolysis. Journal of Veterinary Internal Medicine 1998: 12: 173–177.
38. Poumiand R. Metabolic myopathies. A diagnostic evaluation. Neurologic Clinics 2000: 18: 1–13.
39. Render JA, Common RS, Kennedy FA, Jones MZ and Fyfe JC. Amylopectinosis in fetal and neonatal Quarter Horses. Veterinary Pathology 1999: 36: 157–160.
40. Robertson SIA, Green SL. Carter SW, Bolon BD, Brown MP and Shields RP. Postanesthetic recumbency associated with hyperkalemic periodic paralysis in a quarter horse. Journal of the American Veterinary Medical Association 1992: 201: 1209–1212.
41. Robinson JA, Naylor JM and Crichlow EC. Use of electromyography for the diagnosis of equine hyperkalemic periodic paresis. Canadian Journal of Veterinary Research 1990: 54: 495–500.
42. Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurologic Clinics 2000: 18: 185–194.
43. Saguil A. Evaluation of the patient with muscle weakness. American Family Physician 2005: 71: 1327–1336.
44. Scholte HR, Verduin MH, Ross JD, van den Hoven R, Wensing T and Breukink HJ. Equine exertional rhabdomyolysis: activity of the mitochondrial respiratory chain and the carnitine system in skeletal muscle [see comment]. Equine Veterinary Journal 1991: 23: 142–144.
45. Servidei S and DiMauro S. Disorders of glycogen metabolism of muscle. Neurologic Clinics 1989: 7: 159–178.
46. Shoffner JM. Mitochondrial myopathy diagnosis. Neurologic Clinics 2000: 18: 105–123.
47. Spier SJ, Carlson GP, Harrold D, Bowling A, Byrns G and Bernoco D. Genetic study of hyperkalemic periodic paralysis in horses. Journal of the American Veterinary Medical Association 1993: 202: 933–937.
48. Spier SJ, Carlson GP, Holliday TA, Cardinet GH 3rd and Pickar JG. Hyperkalemic periodic paralysis in horses. Journal of the American Veterinary Medical Association 1990: 197: 1009–1017.
49. Sponseller B, Valberg SJ, Ward TL, Fales-Williams AJ and Mickelson JR. Muscular weakness and recumbency in a Quarter horse colt due to glycogen branching enzyme deficiency. Equine Veterinary Education 2003:15: 182–188.
50. Staempfli H. Myopathies in the horse. Equine veterinary Data 1991: 12: 286–287.
51. Steinberg S and Botelho S. Myotonia in a horse. Science 1962: 137: 979–980.
52. Taivassalo T, Reddy H and Matthews PM. Muscle responses to exercise in health and disease. Neurologic Clinics 2000: 18: 15–34.
53. Tsujino S, Nonaka I and DiMauro S. Glycogen storage myopathies. Neurologic Clinics 2000: 18: 125–150.
54. Valberg S. Tying up in horses. Equine Disease Quarterly 2002: 11:4–5.
55. Valberg S, MacLeah JM and Mickelson JR. Exertional rhabdomyolysis and polysaccharide storage myopathy in horses. Compendium on Continuing Education for the Practicing Veterinarian 1997: 19: 1077–1085.
56. Valberg S, Haggendal J and Lindholm A. Blood chemistry and skeletal muscle metabolic responses to exercise in horses with recurrent exertional rhabdomyolysis. Equine Veterinary Journal 1993- 25 17–22.
57. Valberg SJ, Cardinet GH, 3rd, Carlson GP and DiMauro S. Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses. Neuromuscular Disorders 1992: 2: 351–359.
58. Valberg SJ, Carlson GP, Cardinet GH 3rd, Birks EK, Jones JH, Chomyn A and DiMauro S. Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse. Muscle & Nerve 1994: 17: 305–312.
59. Valberg SJ, Macleay JM, Billstrom JA, Hower-Moritz MA and Mickelson JR. Skeletal muscle metabolic response to exercise in horses with ‘tying-up’ due to polysaccharide storage myopathy. Equine Veterinary Journal 1999: 31: 43–47.
60. Valberg SJ, Mickelson JR. Gallant EM, MacLeavy JM, Lentz L and de la Corte F. Exertional rhabdomyolysis in quarter horses and thoroughbreds: one syndrome, multiple aetiologies. Equine Veterinary Journal, Supplement 1999 30: 533–538.
61. Valberg SJ, Townsend D and Mickelson JR. Skeletal muscle glycolytic capacity and phosphofructokinasc regulation in horses with polysaccharide storage myopathy. American Journal of Veterinary Research 1998: 59: 782–785.
62. Valberg SJ, Ward TL, Rush B, Kinde H. Hiraragi H, Naltey D, Fyfe J and Mickelson JR. Glycogen branching enzyme deficiency in Quarter horse foals. Journal of Veterinary Internal Medicine 2001: 15: 572–580.
63. Valentine B. Polysaccharide Storage Myopathy in Draft and Draft-related Horses and Ponies. Equine Practice 1999: 21: 16–19.
64. Valentine B. Equine polysaccharide storage myopathy. Equine Veterinary Education 2003: 15: 254–262.
65. Valentine BA, Credille KM, Lavoie JP, Fatone S, Guard C, Cumming JF and Cooper BJ. Severe polysaccharide storage myopathy in Belgian and Percheron draught horses. Equine Veterinary Journal 1997: 29: 220–225.
66. Valentine BA, de Lahunta A, Divers TJ, Ducharme NG and Orcutt RS. Clinical and pathologic findings in two draft horses with progressive muscle atrophy, neuromuscular weakness, and abnormal gait characteristic of shivers syndrome. Journal of the American Veterinary Medical Association 1999: 215: 1661-1665, 1621.
67. Valentine BA. Habecker PL, Patterson JS, Njaa BL, Shapiro J, Holshuh HJ, Bildfell RJ and Bird KE.’ Incidence of polysaccharide storage myopathy in draft horse-related breeds: a necropsy study of 37 horses and a mule. Journal of Veterinary Diagnostic Investigation 2001: 13: 63–68.
68. Valentine BA, McDonough SP, Chang YF and Vonderchek AJ. Polysaccharide storage myopathy in Morgan, Arabian, and Standardbred related horses and Welsh-cross ponies. Veterinary Pathology 2000- 37 193–196.
69. Van den Hoven R, Breukink IIJ, Vaandrager-Verduin MH, Scholle HR and Meijer AE. Normal resting values of plasma free carnitine and acylcarnitine in horses predisposed to exertional rhabdomyolysis. Equine Veterinary Journal 1989: 21: 307–308.
70. Van den Hoven P, Meijer AE, Breukink HJ and Wensing T. Enzyme histochemistry on muscle biopsies as an aid in the diagnosis of diseases of the equine neuromuscular system: a study of six cases. Equine Veterinary Journal1988: 20: 46–53.
71. Van den Hoven R, Meijer AE. Wensing T and Breukink HJ. Enzyme histochemical features of equine gluteus muscle fibers. American Journal of Veterinary Research 1985: 46: 1755–1761.
72. Vladutiu GD. The molecular diagnosis of metabolic myopathies. Neurologic Clinics 2000: 18: 53–104.
73. Ward TL, Valberg SJ, Adelson DL, Abbey CA, Binns MM and Mickelson JR. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mammalian Genome 2004: 15: 570–577.
74. Ward TL, Valberg SJ, Gallant EM and Mickelson JR. Calcium regulation by skeletal muscle membranes of horses with recurrent exertional rhabdomyolysis. American Journal of Veterinary Research 2000: 61: 242–247.
75. Wortmann R. Metabolic diseases of muscle In: Diseases of Skeletal Muscle. Edited by R. Wortmann. Lippincott Williams & Wilkins. Philadelphia, 2000. pp. 157–187.
76. Amato AA. Acid maltase deficiency and related myopathies. Neurologic Clinics 2000: 18: 151–165.
77. Xu X and Arnason U. The complete mitochondrial DNA sequence of the horse, Equus cahallus: extensive heteroplasmy of the control region. Gene 1994- 148 357–362.