Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis

Equine Vet J. 2016 Sep;48(5):548-56. doi: 10.1111/evj.12493. Epub 2015 Sep 7.


Reasons for performing study: Although exertional rhabdomyolysis (ER) is common in Arabian horses, there are no dedicated studies describing histopathological characteristics of muscle from Arabian horses with ER.

Objectives: To prospectively identify distinctive histopathological features of muscle from Arabian endurance horses with a history of ER (pro-ER) and to retrospectively determine their prevalence in archived samples from Arabian horses with exertional myopathies (retro-ER).

Study design: Prospective and retrospective histopathological description.

Methods: Middle gluteal muscle biopsies obtained from Arabian controls (n = 14), pro-ER (n = 13) as well as archived retro-ER (n = 25) muscle samples previously classified with type 2 polysaccharide storage myopathy (15/25), recurrent exertional rhabdomyolysis (7/25) and no pathology (3/25) were scored for histopathology and immunohistochemical staining of cytoskeletal proteins. Glutaraldehyde-fixed samples (2 pro-ER, one control) were processed for electron microscopy. Pro-ER and retro-ER groups were compared with controls using Mann-Whitney U and Fisher's exact tests.

Results: Centrally located myonuclei in mature myofibres were found in significantly more (P<0.05) pro-ER (12/13) and retro-ER (21/25) horses than controls (4/14). Degenerating myofibres were not evident in any biopsies. Retro-ER horses had amylase-resistant polysaccharide (6/25, P<0.05) and higher scores for cytoplasmic glycogen, rimmed vacuoles and rod-like bodies. A few control horses (3/14) and significantly (P<0.05) more pro-ER (12/13) and retro-ER (18/25) horses had disrupted myofibrillar alignment and large desmin and αβ-crystallin positive cytoplasmic aggregates. Prominent Z-disc degeneration and focal myofibrillar disruption with regional accumulation of β-glycogen particles were identified on electron microscopy of the 2 pro-ER samples.

Conclusions: In a subset of Arabian horses with intermittent episodes of exertional rhabdomyolysis, ectopic accumulation of cytoskeletal proteins and Z-disc degeneration bear a strong resemblance to a myofibrillar myopathy. While many of these horses were previously diagnosed with type 2 polysaccharide storage myopathy, pools of glycogen forming within disrupted myofibrils appeared to give the false appearance of a glycogen storage disorder.

Keywords: desmin; exertional rhabdomyolysis; horse; intermediate filaments; myofilaments.

MeSH terms

  • Animals
  • Female
  • Genetic Predisposition to Disease
  • Horse Diseases / genetics
  • Horse Diseases / pathology*
  • Horses
  • Male
  • Muscle, Skeletal / pathology
  • Myopathies, Structural, Congenital / pathology
  • Myopathies, Structural, Congenital / veterinary*
  • Physical Endurance
  • Physical Exertion
  • Retrospective Studies
  • Rhabdomyolysis / etiology
  • Rhabdomyolysis / veterinary*
  • Sports

Supplementary concepts

  • Myofibrillar Myopathy