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Peer-reviewed veterinary case report

Polysaccharide Storage Myopathy.

Journal:
The Veterinary clinics of North America. Equine practice
Year:
2025
Authors:
Firshman, Anna M & Valberg, Stephanie J
Affiliation:
Department of Veterinary Population Medicine · United States
Species:
horse

Abstract

Type 1 Polysaccharide Storage Myopathy (PSSM1) is an autosomal dominant glycogen storage disorder affecting more than 20 breeds of horses that can present with a variety of signs, including exertional rhabdomyolysis (ER). It is diagnosed by genetic testing or muscle biopsies containing muscle fibers with abnormal amylase-resistant polysaccharide. Type 2 PSSM has recently been subdivided. PSSM2-ER is a glycogen storage disorder identified in Quarter Horses that causes ER and is diagnosed by muscle biopsy as its genetic basis is unknown. Both PSSM1 and PSSM2-ER respond well to a low nonstructural carbohydrate, high fat diet combined with regular exercise. These forms of PSSM are discussed in this article.

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Original publication: https://pubmed.ncbi.nlm.nih.gov/39893126/