Page 414 - Equine Clinical Medicine, Surgery and Reproduction, 2nd Edition
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Musculoskeletal system: 1.9 Muscle disorders of the horse                    389



  VetBooks.ir  Table 1.5   Breeds in which PSSM1 has been   signs of poor performance, other common causes of
                                                         this presenting complaint, such as orthopaedic con-
                   identified to date
                                                         ditions, upper and lower respiratory tract disease and
              • Quarter horses     • Suffolk Punch       cardiac abnormalities, should all be considered.
              • Appaloosa          • Hanoverian
              • Paint              • Warmblood           Diagnosis
              • Belgian draught horse    • Morgan           • Blood muscle enzyme activity may be
              • Percheron          • Cob                   persistently elevated, even at rest, in many cases
              • Haflinger          • Connemara cross       but some draught breeds may only reveal mild
              • Shire              • Arab cross            elevations following exercise.
              • Polo ponies                                 • A genetic test is now available for PSSM1. This
                                                           can be performed on DNA extracted from blood
                                                           collected into EDTA or hair roots.
          A high prevalence has been described in continental     • PSSM1 can also be diagnosed from a muscle
          draught breeds. The disease is associated with the   biopsy.
          accumulation of glycogen and abnormal polysac-    • PSSM2 can only be diagnosed from a muscle
          charide inclusions within muscle fibres and with a   biopsy.
          reduction in cellular energy availability. In 2008,
          an autosomal dominant mutation in the glycogen  Management
          synthase 1 (GYS1) gene was identified as a cause of   Cases presenting with acute rhabdomyolysis are
          PSSM in approximately two-thirds of horses with   treated as described under RER. In other presenta-
          the disease. This has led to the recent reclassification   tions, long-term management changes are essential
          of the disease as PSSM1 for horses with the GYS1   in resolving the clinical signs.
          mutation and PSSM2 for horses that have abnor-
          mal polysaccharide within their skeletal muscle but     • A regular, graduated daily exercise programme
          lack this gene mutation. Recent work has suggested   plus daily pasture turnout is advised.
          that the abnormal accumulation of polysaccharide in     • A diet low in starch and sugar (<10% digestible
          horses with PSSM2 results from disruption of the   energy [DE] as non-structural carbohydrates
          myofibrillar proteins rather than a primary glycogen   [NSC]) and relatively high in fat (13–20% DE)
          storage disease.                                 should be provided.
                                                            • Horses should continue to receive 1–2% of their
          Clinical presentation                            bodyweight as good-quality forage, ideally with
          The clinical presentation in PSSM can vary from   a low (<12%) NSC content.
          vague signs of poor performance or back pain to loss     • Decrease weight in overweight animals.
          of muscle and hindlimb weakness to acute rhabdomy-    • Grazing may need to be restricted at certain
          olysis. Horses with PSSM1 are more likely to present   times of the year when the NSC content of grass
          with rhabdomyolysis than horses with PSSM2, and   is particularly high.
          the latter are more likely to present with subtle signs     • There are specifically formulated commercial
          of gait abnormality such as an undiagnosed lameness   diets available (such as Dodson and Horrell ERS
          or weakness.                                     Pellets  or Saracen ReLeve ). Alternatively,
                                                                                   ®
                                                                 ®
                                                           a low starch diet may be supplemented with
          Differential diagnosis                           vegetable oil, up to a maximum of 1 ml/kg
          In the horse with exertional rhabdomyolysis, other   bodyweight, to provide sufficient calories.
          causes listed in Table 1.4 should be considered. To   In some cases, diets with a slightly lower fat
          date, PSSM1 has not been identified in a purebred   content may be more palatable yet still be
          Thoroughbred horse. In horses with more subtle   sufficient to control the condition.
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