Miopatia por acúmulo de polissacarídeo tipo I em uma potra: Relato de caso

Abstract

Polysaccharide accumulation myopathy (PSSM) is a genetic disease that affects horses due to the point mutation of the GYS1 gene. This disease has been described in several races. The clinical signs presented are related to myopathy such as muscle fasciculations, muscle stiffness, reluctance to move, and lameness. The diagnosis is based on genetic, histopathological and biochemical tests of muscle enzymes. When the horse is diagnosed with PSSM1, strategic management is necessary. The present study aims to report the clinical and laboratory aspects of a six-month-old filly, of the quarter-mile breed, reins lineage, attended at the Veterinary Hospital of the Federal University of Uberlândia (HV-UFU) that presented clinical signs of myopathy. The filly was diagnosed with PSSM1 through genetic and histopathological testing.