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.
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