Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses

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

Research output: Contribution to journalArticlepeer-review

124 Scopus citations

Abstract

A polysaccharide storage myopathy is described in nine Quarterhorses, Quarterhorse crossbreds, American Paints and Appaloosa horses which had a history of recurrent exertional rhabdomyolysis. Muscle biopsies were characterized by high muscle glycogen concentrations with up to 5% of type 2 muscle fibers containing inclusions which stained positively with the periodic acid Schiff (PAS) stain. The inclusions were classified as an acid mucopolysaccharide, based on their histochemical staining characteristics. Ultrastructural studies revealed that the inclusions were composed of beta glycogen particles interspersed among arrays of filamentous material. In addition, many type 2 fibers contained multiple subsarcolemmal vacuoles. These vacuoles stained lightly with eosin and did not stain positively with PAS. Centrofascicular atrophy and necrosis of scattered type 2 fibers were present in biopsies from some horses. No glyco(geno)lytic enzyme deficiencies were identified using a biochemical screening test for anaerobic glycolysis. Attempts to measure branching enzyme activities in both affected and control samples were unsuccessful, employing methods developed for human muscle. The polysaccharide accumulation in these horses may represent a hereto yet undefined metabolic disorder of skeletal muscle.

Original languageEnglish (US)
Pages (from-to)351-359
Number of pages9
JournalNeuromuscular Disorders
Volume2
Issue number5-6
DOIs
StatePublished - Jan 1 1992

Keywords

  • glycogen
  • Horse
  • muscle
  • polysaccharide
  • rhabdomyolysis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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