Polysaccharide Storage Myopathy (PSSM): A Genetic Diagnosis, AAEP 2008

Polysaccharide storage myopathy (PSSM) is a metabolic muscle problem found in at least 20 breeds, including Quarter Horses, Paints, Appaloosas, and drafts. An affected horse suffers bouts of exertional rhabdomyolysis (tying-up), muscle tremors
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Polysaccharide storage myopathy (PSSM) is a metabolic muscle problem found in at least 20 breeds, including Quarter Horses, Paints, Appaloosas, and drafts. An affected horse suffers bouts of exertional rhabdomyolysis (tying-up), muscle tremors, and/or gait abnormalities. At the 2008 American Association of Equine Practitioners convention, held Dec. 6-10 in San Diego, Calif., Molly E. McCue, DVM, MS PhD, Dipl. ACVIM, an assistant professor in the Department of Veterinary Population Medicine at the University of Minnesota, presented information about genetic testing for one PSSM type.

AAEP

Dr. Molly McCue discusses research into muscle disorder PSSM.
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Researchers at the university discovered a gene mutation that causes unregulated glycogen formation in the muscles of horses with PSSM. This mutation is a gene called GYS1 on chromosome 10, which encodes the skeletal muscle glycogen synthase enzyme responsible for glycogen formation. Because this enzyme is constantly active in affected horses, they accumulate excess glycogen in the cells

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Written by:

Nancy S. Loving, DVM, owns Loving Equine Clinic in Boulder, Colorado, and has a special interest in managing the care of sport horses. Her book, All Horse Systems Go, is a comprehensive veterinary care and conditioning resource in full color that covers all facets of horse care. She has also authored the books Go the Distance as a resource for endurance horse owners, Conformation and Performance, and First Aid for Horse and Rider in addition to many veterinary articles for both horse owner and professional audiences.

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