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Polysaccharide Storage Myopathy.

Anna M Firshman1, Stephanie J Valberg2

  • 1Department of Veterinary Population Medicine, University of Minnesota, 225k VMC, 1365 Gortner Avenue, Saint Paul, MN 55108, USA.

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|February 1, 2025
PubMed
Summary
This summary is machine-generated.

Polysaccharide Storage Myopathy (PSSM1 and PSSM2-ER) are equine glycogen storage disorders causing exertional rhabdomyolysis. Both conditions in horses respond to dietary changes and exercise.

Keywords:
GlycogenGlycogen synthaseGlycogenosisHorseSkeletal muscle

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Area of Science:

  • Equine medicine
  • Animal genetics
  • Veterinary pathology

Background:

  • Polysaccharide Storage Myopathy (PSSM1) is a common genetic disorder in horses.
  • It is characterized by abnormal glycogen accumulation in muscle fibers.
  • PSSM1 can lead to exertional rhabdomyolysis (ER) and affects numerous horse breeds.

Purpose of the Study:

  • To discuss Type 1 Polysaccharide Storage Myopathy (PSSM1) and a newly identified subtype, PSSM2-ER.
  • To highlight diagnostic methods for these equine glycogen storage disorders.
  • To review treatment strategies for PSSM1 and PSSM2-ER.

Main Methods:

  • Diagnosis of PSSM1 involves genetic testing or muscle biopsy.
  • PSSM2-ER is diagnosed via muscle biopsy.
  • The genetic basis of PSSM2-ER is currently unknown.

Main Results:

  • PSSM1 is an autosomal dominant condition affecting over 20 horse breeds.
  • PSSM2-ER is identified in Quarter Horses and causes ER.
  • Both PSSM1 and PSSM2-ER demonstrate positive response to specific management.

Conclusions:

  • PSSM1 and PSSM2-ER are significant equine muscle diseases.
  • Effective management includes a low nonstructural carbohydrate, high-fat diet.
  • Regular exercise is crucial for managing both PSSM1 and PSSM2-ER in horses.