Recognition, diagnosis, and treatment of mitochondrial myopathies in endurance athletes.

Massimo Testa, Franco M. Navazio, Jennifer Neugebauer

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Endurance athletes complaining of muscle pains concomitant with fatigue and exercise intolerance provide a diagnostic challenge. When the most common causes have been ruled out, the presence of metabolic myopathies, including mitochondrial myopathies (MMs), should be considered. MMs are a group of diseases characterized by inadequate mitochondrial ATP production needed for the energetic requirement of the exercising muscles. Athletes with myalgia, fatigue, dyspnea, and muscular cramping should be questioned for history of rhabdomyolysis or myoglobinuria as well as detailed family history, given the predominant matrilinear inheritance of MMs. In all suspected cases, blood lactate and ventilatory response on effort plus muscle biopsy for histologic and molecular studies are recommended. Therapeutic recommendations consist of a set of instructions including genetic counseling, awareness of possible myoglobinuric episodes, and controlled exercise training.

Original languageEnglish (US)
Pages (from-to)282-287
Number of pages6
JournalCurrent sports medicine reports.
Issue number5
StatePublished - Oct 2005

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Public Health, Environmental and Occupational Health


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