(Credit: Briana Malmquist), April 10, 2018 | There are two types of PSSM. This group was created to make it a little easier for mare owners to find stallions who have been tested for genetic diseases. Type 1 PSSM is the form of PSSM caused by the genetic mutation in the glycogen synthase 1 () gene. Feeding a low NSC hay of 4% provides room to add an adequate amount of fat to the diet of easy keepers without exceeding the daily caloric requirement and inducing excessive weight gain. Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis. Of those that adhere to dietary and exercise management, 90% have few to no episodes of tying-up. PSSM1 is diagnosed through the genetic test for the GYS1 variant. There is no cure for PSSM, but there are treatments that can help improve the horses quality of life. For riding horses with type 2 PSSM1, a prolonged warm-up with adequate stretching is recommended. Both presentations involve muscle loss or damage and are linked to the same genetic variant. By definition horses with PSSM1 have a distinctive genetic mutation in the gene. Symptoms of PSSM can vary depending on the severity of the disease, but may include: Muscle stiffness De La Corte FD, Valberg SJ and Hower-Moritz A. Insulin can further worsen PSSM because it causes the GYS1 gene to produce even more glycogen. Gradually adding up to 2 cups per day. Tryon RC, Penedo MCT, McCue, ME, Valberg SJ, Mickelson JR, Famula TR, Wagner M, Jackson M, Hamilton M, Noteboon S, Bannasch DL. Exercise should begin with light slow uncollected work on a longe-line or under saddle beginning with once a day for 3-5 minutes at a walk and trot. Rice bran or vegetable oils can stabilize blood sugar and provide energy. Affects: Eleven percent of American Quarter Horses. The knowledge on the condition, how it occurs, the signs, and the mode of correction will reduce the owners tension. PSSM occurs primarily in horses with Quarter Horse bloodlines, but can also occur in Warmbloods and Draft breeds. The glycogen deposited in the cells is used for energy production. J Am Vet Med Assoc. Young horses with HERDA might appear to have an unusual number of nicks and cuts on their skin, but the disease is most often noticed when the horse starts training under saddle. 4 Quarter Horse Bloodlines to Consider Avoiding - Horsey Hooves The University of Minnesota is an equal opportunity educator and employer. Prevalence and clinical signs of polysaccharide storage myopathy and shivers in Belgian Draft Horses. 1) Caloric balance: Many horses with PSSM1 are easy keepers and may be overweight at the time of diagnosis. Type 1 Polysaccharide Storage disease (PSSM1) is a potentially life-threatening glycogen storage disease (glycogenosis) that affects skeletal muscles. The variety of acronyms used are in part related to preferences of different laboratories, as well as to differences in the criteria used to diagnose polysaccharide storage myopathy. Poco Bueno was a popular sire in the 1950s. The exercise should not be laborious for every day; instead, it should continue a regular structured work. Exertional Rhabdomyolysis is the result of PSSM in horses that may affect all breeds of horses. How Do You Get Rid Of Hard Calcium Deposits In The Shower? Once conditioned, some PSSM1 horses thrive with 4 days of exercise as long as they receive daily turn out. While the exact cause of tying-up is unknown, it is believed to be related to a buildup of lactic acid in the muscles. The mutation causing PSSM1 is a point mutation in the gene that codes for the skeletal muscle form of the glycogen synthase enzyme. Testing of all of the muscle samples submitted to the NMDL that were diagnosed by muscle biopsy as having PSSM showed that not all horses diagnosed with PSSM by muscle biopsy have the mutation. PSSM in Horses - Polysaccharide Storage Myopathy 1 & 2 - SmartPak Equine Few horse breeds are more susceptible to PSSM than other breeds. These may occur with or without exercise. Diagnosis of the GYS1 gene by in some reputed Equine Laboratory in the United States and Europe like Michigan University Equine Neuromuscular Diagnostic Laboratory, University of California, Laboklin in Europe. Genetic testing is not performed at Michigan State University. Select and feed hay that contains less than 10 percent NSC (sugar). The effect of exercise on glucose clearance in horses with polysaccharide storage myopathy. At least three weeks of walk and trot should precede work at a canter. In some cases, sedatives, analgesics, muscle relaxants, and non-steroidal anti-inflammatory drugs (NSAIDs) may be used to provide pain relief, especially for short periods after active episodes of tying up. If your horse does tie-up, it is important to call your veterinarian immediately so they can start treatment. 2008 May 8 e pub Vet J. PSSM is a muscle disorder that affects horses. .hs-submit{display: inline-block; color: white;} Genetic diseases cause emotional and financial pain for horse owners and breeders. Shifting lameness. The Releve Concentrate works well for PSSM1 in moderate to heavy work that require at least 4 lbs of concentrate a day. PSSM is a disorder that causes muscle cramping in horses from abnormal glycogen (sugar) storage in the muscles. Of these, 62.9% of them were Quarter Horse-related breeds. BEMER horse therapy blankets help to regulate blood flow for peak performance. PSSM is caused by a build-up of glycogen in the muscles, which can be caused by a genetic mutation. The unused glucose stored in the liver cell and muscle cells as glycogen (a polymer of glucose). Collapse. This research determined that the horses had 1.8 fold more glycogen (storage form of sugar) in their muscles, a deficit in energy when they exercised and persistent elevations in serum CK activity with exercise unless fed low starch high fat diet. There are cases of PSSM that are not associated with the GYS1-R309H variant. J Vet Int Med 1998;12:173-177. , Finno CM, Spier S and Valberg SJ. Valberg SJ. The horse diet should have vitamins, minerals, protein, and fat in a balanced way, and you can add a muscle development supplement with feed. }). The stallions posted DO NOT have to be negative for the diseases, but. Myosin-heavy chain myopathy (MYHM) is a muscle disease in Quarter Horses and related breeds that results in two distinct clinical disease presentations, immune-mediated myositis (IMM) and non-exertional rhabdomyolysis. Baird JD, Valberg SJ, Anderson SM, McCue ME, Mickelson JR. It leads to excessive and abnormal glycogen accumulation in muscle resulting in stiffness, muscle pain and increased risk of . Feed only hay until symptoms subside. We know that both are the result of the abnormal accumulation of muscle glycogen which is the storage form of glucose in muscles. Remove grain. Provide small paddock turnout once the horse walks freely, usually in 12-24 hours. 52nd Proc American Assoc Equine Pract 2006;53:340-346. 1999 (accepted). Dr. Valberg and other members of the lab team have published their research on PSSM1 in many general interest and scientific articles. While Quarter Horses have a higher incidence of exertional rhabdomyolysis, they are less likely to suffer from muscle atrophy than Draught or Warmblood horses. Balanced Equine - EPSM/PSSM/Tying Up International Conference on Equine Exercise Physiology , Equine Vet J Suppl. 5 Panel Genetic Testing: What to Know - AQHA There is currently no scientifically validated, peer reviewed, diagnostic test for PSSM2 or MFM. The periodic acid Schiff's (PAS) stain is used to look at the amount of sugar stored as glycogen in the muscle. Insulin is a hormone released by the pancreas into the bloodstream in response to a carbohydrate meal. 2020. Am J Vet Res 2007;68(10):1079-1084. Muscle weakness may lead to an inability to rise. Rather, horses should begin small paddock turn out as soon as reluctance to move has abated. PSSM in horses is the most frustrating disease for a horse owner. Thus, this mutation isnt attributed to any given stallion or pedigree within a breed. J Anim Physiol Anim Nutr (Berl). Johlig L, Valberg, SJ, Dolf G, Mickelson JR, Klukowska J, Reusser HR, Straub R, Gerber V. Epidemiologic and genetic study of exertional rhabdomyolysis in Swiss warmblood horses. The Quarter Horse gets its name from its ability to outrun other horse breeds in races of a quarter mile or less; some have been clocked at speeds up to 44 mph (70.8 km/h). Cases of PSSM2/MFM have been reported in warmbloods and Arabians. .hs-main-font-element{color: #29353d} There is less evidence-based data available regarding management of horses with PSSM2 than those with PSSM1, but they are often treated similarly. An autosomal recessive disease caused by mutation in the GBE1 gene. PSSM2 is most commonly found in warmbloods and Arabians. Annandale EJ, Valberg SJ, Mickelson JR and Seaquist ER. Type 1 PSSM is caused by a mutation in the GYS1 gene and occurs in over 20 horse breeds. Description: PSSMis a common form of tying up. Feeding hay with less than 10 percent nonstructural carbohydrates (NSC) and providing regular exercise are good care practices for horses with PSSM. Clinical signs of PSSM range from mild to severe. **Conflict of interest statement: A portion of the profits from Re-Leve is contributed to Stephanie Valberg. BEMER Equine Therapy for Horses | What You Should Know It's likely an old genetic mutation that occurred prior to the foundation of most modern horse breeds. The prevalence of this mutation in Belgian horses is as much as 50%. Herszberg B, McCue ME, Larcher T, Xavier Mata X, Vaiman A, Chaffaux S, Chrel Y, Valberg SJ, Mickelson JR, Gurin G. A GYS1 gene mutation is highly associated with PSSM1 in Cob Normand draft horses. Genetic testing PSSM is a disease that causes an abnormal accumulation of glycogen, the form of sugar stored in the muscle. Yes, PSSM in horses can be hereditary. The most common signs of PSSM in horses are . Equine Pract. Annandale EJ, Valberg SJ, Essen Gustavsson B The effect of submaximal exercise on adenine nucleotide concentrations in skeletal muscle fibers of horses with polysaccharide storage Myopathy Am J Vet Res 2005;66:839-845. This article will describe the signs and symptoms of PSSM and the two different types, explain options available to veterinarians to diagnose PSSM, and outline the use of diet in . Horses with mild or moderate cases of PSSM, with proper management, can return to normal performance. Understanding AQHA's Five-Panel Genetic Disease Test When horses stop moving they may stretch out as if to urinate. Perkins G, Valberg SJ, Madigan JE, Carlson GP, and Jones SL. The primary clinical sign of this disease is muscle cramping or tying-up; however, clinical signs may vary with different breeds and severity. The disease is also known as Equine Polysaccharide Storage Myopathy (EPSM) or tying up of the horse. How do I prevent another episode of tying-up in my PSSM 1 horse? Am J Vet Res 1996;57:286-290. Even 10 min of exercise has been shown to be extremely beneficial in reducing muscle damage with exercise. Vet Pathol. .hs-input{width: 100%; border-radius: 3px;} An autosomal dominant disease caused by point mutation in the SCN4A gene. Firshman AM, Valberg SJ. It is always important to let your veterinarian know if an animal has tested positive for PSSM1. Common heavy horse breeds in the United States include the Clydesdale, Shire, Belgian Draft or Belgian, Suffolk Punch and Percheron. Polysaccharide storage myopathy (PSSM) is a disease that results in an abnormal accumulation of glycogen (sugar) in the muscles. What is type 1 polysaccharide storage myopathy (PSSM1)? Important principles include 1) providing adequate time for adaptation to a new diet before commencing exercise (2 weeks), 2) recognizing that the duration of exercise is more important to restrict than the intensity of exercise (no more than 5 min walk/trot to start) 3) ensuring that exercise is gradually introduced and consistently performed and 4) minimizing any days without some form of exercise. PSSM horses tend to be more sensitive to insulin. A muscle biopsy may be taken to evaluate muscle damage and measure the amount of glycogen in the muscle. There are currently no scientifically verified DNA tests for PSSM2, but a muscle biopsy can be performed for diagnosis. . 2010 Nov 13;167(20):781-4. The urine in such horses is often coffee colored, due to muscle proteins being released into the bloodstream and passed into the urine. Affects: Approximately 8-10 percent of American Quarter Horses; Paints can be carriers, as can Appaloosas and breeds that descend from the American Quarter Horse. The most common signs of PSSM in horses are " tying up " like symptoms due to excessive deposition of glycogen in the muscle cells. Muscle soreness and gait abnormalities in warmbloods. , Episodes of muscle pain and stiffness can be quite severe, resulting in a horse being unable to stand and being uncomfortable even when lying down. The GYS1 gene plays a role in glycogen production. Muscle conditions affecting sport horses. About AQHA Type 1 PSSM is caused by a mutation in the GYS1 gene. This is different from diseases such as HERDA and GBED, which are inherited in a recessive fashion, where 2 copies of the mutant gene are required for disease. Researchers have not yet determined what causes PSSM Type 2. J Am Vet Med 2009 Jan 1;234(1):120-5. .hbspt-form{margin-top: 35px;} Vegetable oils and rice bran with medium and long chain fats can also be added to roughage base or a ration balancer as a fat source. To help breeders make informed decisions, AQHA offers a panel test for five genetic diseases: When the test is ordered, AQHA will send a testkit, and the owner will mail the hair sample directlyto the Veterinary Genetics Laboratory at the University of California-Davis for testing. Electrolytes (potassium, sodium, and chloride) may be added to drinking water, if palatable to the horse. The disease results from the accumulation of abnormal glycogen (carbohydrate storage molecule) that can damage muscle cells. Only one parent needs to pass the genetic mutation to its offspring for signs of tying-up to occur. The condition is known as exertional Rhabdomyolysis. Hose the horse to remove sweat if the weather is warm. Type 2 PSSM refers to PSSM that occurs without genetic mutation. For chronic cases, prolonged rest after an episode appears to be counterproductive and predisposes PSSM horses to further episodes of muscle pain. What should I do if a horse is stiff and reluctant to move? How do I know if I should do the genetic test or the muscle biopsy? Note: ADNA testis required for most breeding stock. PSSM in horses or Polysaccharide storage myopathy is a severe and inheritable glycogen storage disease characterized by muscle damage, stiffness, reluctance to move, and severe colic. A mutation in this gene causes the muscle cells to continually make glycogen. Even ten minutes of exercise has been shown to be extremely valuable in reducing muscle damage. What is Warmblood Fragile Foal Syndrome Type 1? Under saddle, affected horses may be reluctant to go forward or collect. Anim Genet. If this occurs, they should go back to the fitness program described above using longeing or round pen work. Cytogenet Genome Res 2003;102:211-216. Equine Vet J. The clinical signs of a PSSM episode are typically associated with tying-up. } Type 1 PSSM is caused by a mutation in the GYS1 gene. An autosomal dominant disease caused by mutation in the ryanodine receptor 1 (RYR1). Genetic testing can be utilized to avoid breeding PSSM1-affected horses. American Assoc. Allele frequencies of inherited disease genes in subpopulations of American Quarter Horses. Genetic Testing: Whole blood or hair roots can be submitted for PSSM1 genetic testing to the University of Minnesota Veterinary Diagnostic Laboratory (800) 605-8787. HYPP traces back to the stallion Impressive. An autosomal recessive disease caused by mutation in the peptidyl-prolyl isomerase B (PPIB) gene. At this time, aside from PSSM1, there is not a genetic test for other forms of PSSM. 2000;22(8):782-788. Exercise: Regular daily exercise is extremely important for managing horses with PSSM1. McKenzie EM, Valberg SJ and Pagan J. No matter who is selected as the breeding partner there is a 50% chance or greater that a PSSM1 horses offspring will develop the disease. 2018. CanStockPhoto/Vanell. Description: The mutation of the GBE1 gene reduces the function of the glycogen branching enzyme so that cardiac and skeletal muscle, the liver and the brain cannot store and mobilize glycogen. When horses stop moving they may stretch out as if to urinate. PSSM1 genetic testing, University of California, Davis, Veterinary Genetics Laboratory, PSSM testing, University of Minnesota Veterinary Diagnostic Laboratory. Horses with PSSM1 can exhibit symptoms without exercise. Valberg, S.J. This will need to be tailored to your individual horses needs and abilities. An estimated 3 or more percent of second- and third-term abortions are caused by GBED. East Lansing, MI 48824, Equine Neuromuscular Diagnostic Laboratory. BEMER's research in pain relief for horses is shaping the equine industry. A condition known as myofibrillar myopathy (MFM), characterized by exercise intolerance and intermittent exertional rhabdomyolysis, may be an extreme subset of PSSM2, but further research is needed. This is a serious situation, as it can damage the horses kidneys if they become dehydrated. The cause of Type 2 PSSM has yet to be identified. The total non-structural carbohydrate (NSC) should not be not more than 12% of the diet. Your veterinarian can prescribe the best medication for your horses needs. In contrast, a 4% NSC Blue Grama hay would provide 13.5 MCal/day which would allow a reasonable addition of 4.5 MCal of fat per day (538 ml of vegetable oil). The management of Equine Polysaccharide Storage Myopathy includes the combination of diet, exercise, and metabolism of carbohydrates within the cells. Polysaccharide storage myopathy is a glycogen storage disorder and is characterized by the abnormal accumulation of the normal form of sugar stored in muscle (glycogen) as well as an abnormal form of sugar (polysaccharide) in muscle tissue. About 8% of the Quarter Horse-related breeds also have this mutation. Equine Vet J. Firshman AM, Valberg SJ, Baird JD, Hunt LM and DiMauro S. Insulin Sensitivity in Belgian Draft Horses with Polysaccharide Storage Myopathy 2008 Jun;69(6):818-23. .hbspt-form{margin-top: 35px;} Polysaccharide Storage Myopathy, or PSSM, is a type of muscle disease that affects horses with Quarter Horse bloodlines. Muscle break down and progressive weakness in draft horses. Thus, this mutation isn't attributed to any given stallion or pedigree within a breed. Firshman AM, Baird JD and Valberg SJ. Suitable oils include soybean, corn, safflower, canola, flaxseed, linseed, fish, peanut and coconut. You can read more about Exertional rhabdomyolysis here. Valberg, S.J., Williams, Z.J., Finno, C.J., Schultz, A., Velez-Irizarry, D., Henry, M.L., Gardner, K., Petersen, J.L. Polysaccharide Storage Myopathy (PSSM) is a chronic muscular condition in horses that comes under the broader heading of "tying up," or exertional rhabdomyolysis. if(typeof ez_ad_units!='undefined'){ez_ad_units.push([[300,250],'thevetexpert_com-box-4','ezslot_7',115,'0','0'])};__ez_fad_position('div-gpt-ad-thevetexpert_com-box-4-0'); The success of the management of EPSSM is mostly based on the correct and balanced diet for the horse. Do not force the horse to walk. Valberg, S.J., Finno, C.J., Henry, M.L., Schott, M., Velez-Irizarry, D., Peng, S., McKenzie, E.C., Petersen, J.L. Scientific articles by Dr Valberg and colleagues, Mary Anne McPhail Dressage Chair in Equine Sports Medicine, Neuromuscular Diseases related to vitamin E. What is polysaccharide storage myopathy (PSSM)? Many exercise studies have proven that this is absolutely not the case with PSSM1. J Vet Int Med 2002;16:581-587. A genetic mutation in the, Polysaccharide storage myopathy type 2 (PSSM2) also results in abnormal glycogen storage in muscle, but horses do not have the, PSSM1 is diagnosed through the genetic test for the, There are other causes for tying-up besides PSSM, including. If only the diet is changed, researchers have found that approximately 50 percent of horses improve. The pressure of the saddle on the back causes the skin to tear and separate, leaving raw areas. Exertional rhabdomyolysis and polysaccharide storage myopathy in Quarter Horses. Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis. Turn out is very beneficial for PSSM1 horses as they get regular exercise during turn out, however consider the sugar content of the pasture when designing a diet. Those horses that are P/P are often more severely affected and harder to manage. Some affected horses, however, do not exhibit any clinical signs. 2020. The managemental guide also simple; diet and exercise. This can be performed on hair or blood samples. Animal Genetics (Sept e press). Sections of muscle are evaluated with a number of special stains. Two types of PSSM have been identified, PSSM1 and PSSM2. Type 1 PSSM. .hs-error-msg{color: #29353d} International Conference on Equine Exercise Physiology Equine Vet J Suppl. Pssm Results - Aqha This with a12%NSC hay there is only room for 0.6 MCal of fat per day (72 ml of vegetable oil) in order to achieve 18 MCal of energy. With PSSM1, the intensity of this stain is very dark indicating a large amount of glycogen is present in the horse's muscle. If only the diet is changed, we found that approximately 50% of horses improve.