Myofibrillar Myopathy

Myofibrillar myopathy (MFM) is characterized by segmental disarray of myofibrils and ectopic accumulation of a protein called desmin. Previously thought to be a glycogen storage disease, MFM is now recognized as a stand-alone myopathy. Endurance Arabians with MFM usually present with exertional rhabdomyolysis (MFM-ER) at the end of races, elevated serum muscle enzymes, and myoglobinuria. Warmblood horses with MFM (MFM-WB) usually present with pain-associated behaviors such as exercise intolerance, reluctance to engage hind quarter muscles, shifting lameness and normal serum muscle enzymes. Both forms have evidence of decreased cysteine-based antioxidants and, additionally, MFM-WB has molecular signatures of a maladaptive training response.