A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds

Stanley, Rachael; McCue, Molly E.; Valberg, Stephanie J.; Mickelson, James R.; Mayhew, I. G.; McGowan, Catherine; Hahn, Caroline; Patterson-Kane, Janet C.; Piercy, Richard J.

doi:10.2746/042516409x407611

Cited by 46 publications

(39 citation statements)

References 26 publications

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“…The R309H mutation associated with equine polysaccharide storage myopathy type 1 occurs in diverse horse breeds worldwide (Baird et al, 2010;McCue et al, 2008a;Stanley et al, 2009).…”

Section: Molecular Geneticsmentioning

confidence: 99%

Polyglucosan storage myopathies

Hedberg‐Oldfors

Oldfors

2015

Molecular Aspects of Medicine

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“…The R309H mutation associated with equine polysaccharide storage myopathy type 1 occurs in diverse horse breeds worldwide (Baird et al, 2010;McCue et al, 2008a;Stanley et al, 2009).…”

Section: Molecular Geneticsmentioning

confidence: 99%

Polyglucosan storage myopathies

Hedberg‐Oldfors

Oldfors

2015

Molecular Aspects of Medicine

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“…In horses where repeated bouts of rhabdomyolysis occur, the presence of an underlying muscle disease should be considered. The two most common inherited diseases associated with episodes of rhabdomyolysis are recurrent exertional rhabdomyolysis (RER) in thoroughbreds (MacLeay and others 1999b) and polysaccharide storage myopathy (PSSM), which has been described in a wide variety of horse breeds (Stanley and others 2009). …”

Section: Treatment Of Acute Rhabdomyolysismentioning

confidence: 99%

Managing muscle disease in horses

Naylor¹

2014

In Practice

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Since the early descriptions of ‘Monday morning disease’ (exertional rhabdomyolysis), skeletal muscle disease has long been recognised as a significant problem in the horse. Epidemiological studies have suggested that muscle problems affect up to 6.7 per cent of racing thoroughbreds (McGowan and others 2002) and in some other breeds up to 66 per cent of the population are affected (Valentine and others 2001). Skeletal muscle comprises up to 55 per cent of the body mass of athletic horses (Kearns and others 2002) and has a key role in the metabolism of an individual. It is therefore not surprising that disease processes affecting this organ can have a major impact on the welfare and performance of a horse. This article discusses some common muscle disorders of the horse and ways to manage and treat them.

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“…Analysis of over 830 horses of a variety of breeds in the US determined that 72% of Quarter Horses and 18% of WB diagnosed with PSSM by the presence of aggregates of amylase- sensitive or resistant glycogen in muscle samples possessed the GYS1 mutation [4]. In the United Kingdom, 21% of horses diagnosed with PSSM by muscle biopsy were found to have the GYS1 mutation [5]. Because some horses diagnosed with PSSM by muscle histopathology did not possess the GYS1 mutation, two terms were applied; type 1 PSSM (PSSM1) was used to denote horses with the GYS1 mutation and type 2 PSSM (PSSM2) to denote horses that had abnormal histologic muscle glycogen yet lacked the GYS1 mutation.…”

Section: Introductionmentioning

confidence: 99%

Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy

2018

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Type 1 polysaccharide storage myopathy (PSSM1) is a glycogen storage disorder of known cause whereas the basis for type 2 PSSM (PSSM2) is unknown. The same diet and exercise regime prescribed for PSSM1 is recommended for PSSM2; however, the benefit of these recommendations for PSSM2 is undocumented. The objectives of this study were to determine traits of PSSM2 Warmblood horses (WB), determine the changes in exercise responses that occur with a recommended low-starch/fat-supplemented diet and exercise regime, and determine if glycogen concentrations correspond to the severity of signs. Owners of PSSM2 WB (2008–2016), completed a retrospective questionnaire regarding their horse. Glycogen concentrations were analyzed in skeletal muscle of PSSM2 WB (n = 36) obtained prior to recommendations and in control WB with no evident myopathy (n = 23). Chi-square, Fisher’s exact, McNemar’s tests with Bonferroni correction and Mann Whitney testing were utilized. Abnormal exercise responses reported by owners, began at approximately 6 years of age and included a decline in performance, a reluctance to collect and reluctance to go forward in over 50% of horses. With the recommended diet and exercise regime, 80% of PSSM2 WB owners reported an overall improvement with significant decreases in the proportion of horses showing a decline in performance and rhabdomyolysis. However, 53% of PSSM2 WB were still not advancing as expected with reluctance to go forward and collect persisting in approximately one third of horses. Median muscle glycogen concentrations did not differ between PSSM2 WB and WB with no evident myopathy. PSSM2 WB with the highest glycogen concentrations were significantly more likely to show a decline in performance than those with lower glycogen concentrations. In conclusion, diet and exercise recommendations ideal for PSSM1 improve but do not eliminate the decline in performance and reluctance to go forward under saddle characteristic of PSSM2.

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A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds

Abstract: Genotyping is recommended in cases of exertional rhabdomyolysis, prior to or in combination with, muscle biopsy. However a significant proportion of horses with histopathological evidence of PSSM and/or exertional rhabdomyolysis have different diseases.

Cited by 46 publications

References 26 publications

Polyglucosan storage myopathies

Polyglucosan storage myopathies

Managing muscle disease in horses

Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy

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