Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options

Med Sci Sports Exerc. 2005 Dec;37(12):2086-93. doi: 10.1249/01.mss.0000177341.89478.06.


Mitochondrial myopathies are caused by genetic mutations that directly influence the functioning of the electron transport chain (ETC). It is estimated that 1 of 8,000 people have pathology inducing mutations affecting mitochondrial function. Diagnosis often requires a multifaceted approach with measurements of serum lactate and pyruvate, urine organic acids, magnetic resonance spectroscopy (MRS), muscle histology and ultrastructure, enzymology, genetic analysis, and exercise testing. The ubiquitous distribution of the mitochondria in the human body explains the multiple organ involvement. Exercise intolerance is a common but often an overlooked hallmark of mitochondrial myopathies. The muscle consequences of ETC dysfunction include increased reliance on anaerobic metabolism (lactate generation, phosphocreatine degradation), enhanced free radical production, reduced oxygen extraction and electron flux through ETC, and mitochondrial proliferation or biogenesis (see article by Hood in current issue). Treatments have included antioxidants (vitamin E, alpha lipoic acid), electron donors and acceptors (coenzyme Q10, riboflavin), alternative energy sources (creatine monohydrate), lactate reduction strategies (dichloroacetate) and exercise training. Exercise is a particularly important modality in diagnosis as well as therapy (see article by Taivassalo in current issue). Increased awareness of these disorders by exercise physiologists and sports medicine practitioners should lead to more accurate and more rapid diagnosis and the opportunity for therapy and genetic counseling.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antioxidants / therapeutic use
  • Exercise Tolerance / drug effects
  • Exercise Tolerance / physiology*
  • Free Radicals
  • Humans
  • Mitochondria / pathology*
  • Mitochondrial Diseases / physiopathology
  • Mitochondrial Myopathies / diagnosis*
  • Mitochondrial Myopathies / drug therapy
  • Mitochondrial Myopathies / physiopathology
  • Muscles / metabolism*
  • Muscles / physiopathology
  • Mutation


  • Antioxidants
  • Free Radicals