Polysaccharide Storage Myopathy beim Haflinger und Noriker

Die Polysaccharide Storage Myopathy (PSSM) Typ 1 aufgrund einer GYS-1-Mutation tritt auch beim Haflinger und Noriker auf. Klinische Symptome, wie Myalgie, Muskelatrophie der Rückenmuskulatur und der Hinterhand, aber auch Schwäche und Gangabnormalitäten stehen im Vordergrund. Die Diagnose erfolgt über einen Gentest (Restriktionslängen Polymorphismus Assay). Eine Haltungs- und Fütterungsoptimierung wird bei Pferden mit GYS-1-Mutation empfohlen.

• Literatur

• 1 Annandale EJ, Valberg SJ, Mickelson JR, Seaquist ER. Insulin sensitivity and skeletal muscle glucose transport in horses with equine polysaccharide storage myopathy. Neuromuscular Disorders 2004; 14: 666-674
• 2 Baird JD, Valberg SJ, Anderson SM, McCue ME, Mickelson JR. Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds. Vet Rec 2010; 167: 781-784
• 3 Borgia IA, Valberg SJ, McCue ME, Pagan JD, Roe CR. Effects of dietary fats with odd or even numbers of carbon atoms on metabolic response and muscle damage with exercise in Quarter horse-type horses with type-1 polysaccharide storage myopathy. Am J Vet Res 2010; 71: 326-336
• 4 De la Corte FD, Valberg SJ, Williamson D, MacLeay JM, Mickelson JR. Enhanced glucose uptake in horses with polysaccharide storage myopathy (PSSM). Am J Vet Res 1999; 60: 458-462
• 5 Finno CF, Spier SJ, Valberg SJ. Equine diseases caused by known genetic mutations. Vet J 2009; 179: 336-347
• 6 Firshman AM, Valberg SJ, Bender JB, Finno CJ. Epidemiologic characteristics and management of polysaccharide storage myopathy in Quarter Horses. Am J Vet Res 2003; 64: 1319-1327
• 7 MacLeay JM. Disorders of the musculoskeletal System. In: Reed SM, Bayly WM, Sellon DC, eds. Equine Internal Medicine. 3rd. ed. St. Louis, MO, USA: Saunders Elsevier; 2010: 488-544
• 8 McCue ME, Anderson SM, Valberg SJ, Piercz FJ, Barakyai SZ, Binns MM, Distl O, Penedo MCT, Mager ML, Mickelson JR. Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds. Animal Gen 2010; 41: 145-149
• 9 McCue ME, Armien AG, Lucio M, Mickelson JR, Valberg SJ. Comparative skeletal muscle histopathologic and ultrastructural features in two forms of polysaccharide storage myopathy in horses. Vet Path 2009; 46: 1281-1291
• 10 McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR. Glycogen synthase mutation causes a novel skeletal muscle glycogenosis. Genomics 2008; 91: 458-466
• 11 McCue ME, Valberg SJ, Lucio M, Mickelson JR. Glycogen synthase 1 mutation in diverse breeds with polysaccharide storage myopathy. J Vet Intern Med 2008; 22: 1228-1233
• 12 McCue ME, Valberg SJ. Estimated prevalence of polysaccharide storage myopathy among overtly healthy Quarter horses in the United States. J Am Vet Med Assoc 2007; 231: 746-750
• 13 Quieroz-Rothe E, Novales M, Aguilero-Tejero E, Eivero JLL. Polysaccharide storage myopathy in the M. longissimus lumborum of showjumpers and dressage horses with back pain. Eq Vet J 2002; 24: 171-176
• 14 Schwarz B, van den Hoven R. Glycogen Synthase 1 mutation causing PSSM in 2 Austrian Haflingers. Wiener Tierärztliche Monatsschrift 2010; 97: 302-306
• 15 Schwarz B, Ertl R, Zimmer S, Netzmann Y, Klein D, Schwendenwein I, van den Hoven R. Estimated prevalence of the GYS-1 mutation in healthy Austrian Haflingers. Vet Rec 2011; 169: 583
• 16 Schwarz B, Abel H, Gruber A, Ertl R, Klein D (submitted) Glycogen Synthase 1 mutation causing PSSM in three Austrian Norikers. Noch nicht publiziert.
• 17 Schwarz B Noch nicht publiziert.
• 18 Stanley RL, McCue ME, Valberg SJ, Mickelson JR, Mayhew IG, McGowan C, Hahn CN, Patterson-Kane JC, Piercy RJ. A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds. Eq Vet J 2009; 41: 597-601
• 19 Valberg SJ, Cardinet III GH, Carlson GP, Dimauro S. Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses. Neuromuscular Disorders 1992; 2: 352-359
• 20 Valberg SJ. Polysaccharide Storage Myopathy. AAEP Proceedings 2006; 52: 373-380
• 21 Valentine BA. Polysaccharide Storage Myopathy in draft and draft-related horses and ponies. Eq Pract 1999; 21: 16-19
• 22 Valentine BA, Cooper BJ. Incidence of polysaccharide storage myopathy: necropsy study of 225 horses. Vet Pathol 2005; 42: 823-827
• 23 Wijnberg I, Ruitenbeek W, Jansen G, Westermann C, Kolk J. Myopathy in a Haflinger horse: an initiating search for a fatty acid oxidation deficiency. Eq Vet Educ 2008; 20: 532-538
• 24 Haflinger Breedersʼ Association Tyrol. The Haflinger – a living Tyrolean cultural asset (2011). Im Internet: http://www.haflinger-tirol.com/en/history Stand: 12.07. 2011
• 25 University of Minnesota Equine Center. Polysaccharide Storage Myopathy (2011). Im Internet: http://www.cvm.umn.edu/umec/lab/PSSM/ Stand: 12.07.2011