Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses

Valberg, Stephanie J.; Cardinet, George H.; Carlson, Gary P.; DiMauro, Salvatore

doi:10.1016/s0960-8966(06)80006-4

Cited by 134 publications

(196 citation statements)

References 23 publications

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“…Clearly, the severity and nature of the changes in skeletal muscle of horses with EPSSM is somewhat variable. The findings reported here were less severe than those often seen in affected Quarter Horses 8,10 and draft horses, 13 suggesting that different breeds may have a different form of this disorder. Myopathic changes and aggregates of glycogen and complex polysaccharide are not, however, found in normal equine skeletal muscle stained with PAS for glycogen (Fig.…”

contrasting

confidence: 58%

“…Although previously recognized in a small number of horses with various signs of neuromuscular dysfunction, 2,7 the first report of this disorder in a larger group of horses was in Quarter Horserelated breeds with recurrent exertional rhabdomyolysis. 8 It is also recognized to occur in draft horse-related breeds 1,[12][13][14] and in Warmbloods. 10 Exertional rhabdomyolysis is a common finding in affected horses, 8,14,16 although generalized muscle atrophy and weakness, abnormal pelvic limb gait, pelvic limb muscle atrophy, postanesthetic myopathy, and spontaneous recumbency with inability to rise also occur.…”

mentioning

confidence: 99%

“…8 It is also recognized to occur in draft horse-related breeds 1,[12][13][14] and in Warmbloods. 10 Exertional rhabdomyolysis is a common finding in affected horses, 8,14,16 although generalized muscle atrophy and weakness, abnormal pelvic limb gait, pelvic limb muscle atrophy, postanesthetic myopathy, and spontaneous recumbency with inability to rise also occur. 1,12,14,16 The disorder is thought to be inherited 9,12,13 but may be clinically inapparent for many years.…”

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confidence: 99%

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Polysaccharide Storage Myopathy in Morgan, Arabian, and Standardbred Related Horses and Welsh-cross Ponies

Valentine

McDonough²,

Chang³

et al. 2000

Vet Pathol

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Abstract. Polysaccharide storage myopathy is an equine neuromuscular disorder characterized by accumulation of glycogen-related polysaccharide inclusions within skeletal muscle fibers. The pathologic criteria for diagnosis of this disorder are somewhat controversial; however, periodic acid-Schiff-positive, amylase-resistant inclusions are considered pathognomonic. Although these inclusions are most often found in affected horses related to the Quarter Horse, draft horse, and Warmblood breeds, this report describes these characteristic inclusions in muscle of five horses from nonrelated breeds (two Morgans, one Arabian, one Arabian ϫ Thoroughbred, and one Standardbred) and two Welsh cross ponies. Affected horses had histories of recurrent exertional rhabdomyolysis, and one developed progressive weakness leading to increased recumbency. The affected ponies were part of an unrelated research project and had no apparent clinical signs.

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confidence: 58%

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confidence: 99%

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confidence: 99%

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Polysaccharide Storage Myopathy in Morgan, Arabian, and Standardbred Related Horses and Welsh-cross Ponies

Valentine

McDonough²,

Chang³

et al. 2000

Vet Pathol

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“…PSSM was first described in 1992 in nine Quarter Horse-related horses with a history of repeated ER. The disorder is characterized by abnormal subsarcolemmal and intracytoplasmic accumulation of amylase sensitive glycogen and amylase resistant polysaccharide within muscle fibres (Valberg et al, 1992). The most often affected breeds are Quarter Horserelated breeds and draught horses (McCue et al, 2006).…”

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confidence: 99%

Histopathological findings in horses with and without clinical signs of rhabdomyolysis with special reference to polysaccharide storage myopathy

Ludvíková¹,

Wijnberg²,

Fictum³

et al. 2008

Vet. Med. - Czech

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Objective of the study was to assess histopathological changes in horses with a clinical history of exertional rhabdomyolysis (ER) with special reference to polysaccharide storage myopathy and to compare histopathological findings in horses with and without a clinical history of ER. In total 39 muscle samples were collected, from horses with a history of repeated episodes of exertional rhabdomyolysis (test group, 10 horses) and from horses without clinical signs of muscular disorders in their history (control group, 29 horses). Frozen muscle samples were stained with haematoxylin and eosin and periodic acid-Schiff with and without amylase digestion. Histopathologic changes (amylase resistant polysaccharide, subsarcolemmal glycogen, intracytoplasmic masses, subsarcolemmal vacuoles, fibre size variation and internal nuclei) were evaluated. There was a statistically significant difference between groups in the presence of subsarcolemmal amylase sensitive glycogen deposits (P ≤ 0.0001), the risk ratio was 5.22. Statistically significant differences between groups were not found regarding the presence of intracytoplasmic masses, subsarcolemmal vacuoles, amylase resistant polysaccharide, fibre size variation and internal nuclei. Presence of amylase resistant polysaccharide within muscle fibres of apparently healthy horses could be a manifestation of different phenotype expression of PSSM but also the insufficient specificity of this diagnostic criterion.

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“…PSSM (Polysaccharide storage myopathy) wurde erstmals im Jahr 1992 bei Quarter Horses mit leistungsinduzierter Rhabdomyolyse beschrieben (Valberg et al 1992). Etwa 16 Jahre später wurde eine damit in Zusammenhang stehende Mutation im Glycogen Synthase-Gen (GYS1) entdeckt (McCue et al 2008a) , in der Nomenklatur nun PSSM-Typ 1 genannt.…”

Section: Einführungunclassified

Polysaccharide Storage Myopathy – a review

Schümann¹,

Hoven²

2014

PHK

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Zusammenfassung: Die Polysaccharid-Speicher-Myopathie (PSSM) wurde kürzlich beim Noriker und Haflinger festgestellt und konnte insgesamt bisher bei ca. 35 Pferderassen nachgewiesen werden. Die unterschiedlichen Prävalenzen sind insgesamt derartig hoch, dass die Erkrankung eine große Praxisrelevanz hat. In dieser Übersicht werden die wichtigsten Aspekte bezüglich der Erkrankung, der Diagnostik und des Managements kurz zusammengefasst. Eine große Hilfe für die Diagnose von PSSM-Typ 1 ist der Gentest auf eine bestehende GYS-1-Mutation, allerdings kann PSSM-Typ 2 nur durch die Histologie von Muskelbiopsien diagnostiziert werden. Das Management der beiden Formen besteht vor allem in einer kohlenhydratarmen, fettreichen Fütterung und regelmäßiger und ausreichender Bewegung. Schlüsselwörter: Pferd / Haflinger / GYS-1 / PSSMPolysaccharide Storage Myopathy -a review Polysaccharide Storage Myopathy (PSSM) has recently been found in the Noriker and Haflinger breed and it has been documented for about 35 other horse breeds. The different prevalence rates are such that the disease is of high practical relevance. In this overview the important aspects of the disease itself, diagnosis and management are briefly summarized. A great help in the diagnosis of PSSM type 1 is the gene test for GYS-1 mutation. However, PSSM type 2 can only be diagnosed by histology of muscle biopsies. The management of both forms is mainly by carbohydrate-poor and fat-rich diets and providing regular and sufficient exercise.

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Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses

Cited by 134 publications

References 23 publications

Polysaccharide Storage Myopathy in Morgan, Arabian, and Standardbred Related Horses and Welsh-cross Ponies

Polysaccharide Storage Myopathy in Morgan, Arabian, and Standardbred Related Horses and Welsh-cross Ponies

Histopathological findings in horses with and without clinical signs of rhabdomyolysis with special reference to polysaccharide storage myopathy

Polysaccharide Storage Myopathy – a review

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