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Phenotype: Horses with Type 1 Polysaccharide Storage Myopathy (PSSM1) have a muscle disease characterized by accumulation of abnormal complex sugars (glycogen) in skeletal muscles. The accumulation of abnormal sugars can cause breakdown of muscle fibers (rhabdomyolosis) which leads to muscle pain, weakness, skin twitching, sweating, and reluctance to move.
Mode of Inheritance: Autosomal dominant
Alleles: N = Normal, PSSM1 = Polysaccharide Storage Myopathy Type I
Breeds appropriate for testing: Quarter Horses and related breeds including Paint Horses, Appaloosas, and Pony of the Americas. Draft Horse breeds including Belgian, Percheron, Shire, Haflinger, and Cob Normand draught horses. Additional breeds include Exmoor Ponies, Missouri Fox Trotter, Morgan, Mustang, Noriker, Rhenish German Coldblood, Rocky Mountain Horse, Tennessee Walking Horse, Saxon-Thuringian Coldbloods, South German Coldbloods, and various Warmblood breeds.
Explanation of Results:
- Horses with N/N genotype will not have type 1 Polysaccharide Storage Myopathy and cannot transmit the PSSM1 variant to their offspring.
- Horses with N/PSSM1 genotype will have the PSSM1 variant and may show signs of type 1 disease. Horses with this genotype may transmit the PSSM1 variant to 50% of their offspring.
- Horses with PSSM1/PSSM1 genotype are homozygous for the PSSM1 variant and may be more severely affected than N/PSSM1 horses. Horses with this genotype will transmit the PSSM1 variant to all of their offspring.