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Neurology 2002;58:1533-1538
© 2002 American Academy of Neurology

A forearm exercise screening test for mitochondrial myopathy

Tina D. Jensen, BS, Pedram Kazemi-Esfarjani, MD, Elwira Skomorowska, MD and John Vissing, MD PhD

From the Copenhagen Muscle Research Center (Drs. Kazemi-Esfarjani and Vissing, and T. Jensen) and Departments of Neurology (Drs. Kazemi–Esfarjani and Vissing, and T. Jensen) and Radiology (Dr. Skomorowska), National University Hospital, Rigshospitalet, Copenhagen, Denmark.

Address correspondence and reprint requests to Dr. John Vissing, Director, Neuromuscular Clinic, Department of Neurology 2082, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark; e-mail: vissing{at}rh.dk

Background: The authors hypothesized that impaired oxygen extraction in mitochondrial myopathy (MM) results in a high oxygen saturation in venous effluent blood from working muscle and that this phenomenon can be used as a diagnostic tool for MM.

Methods: Twelve patients with MM, 10 patients with muscular dystrophy, and 12 healthy subjects were studied. All subjects performed intermittent static handgrip exercise (1/2 Hz) at 40% of maximal voluntary contraction (MVC) for 3 minutes. Cubital venous oxygen saturation and brachial artery flow were measured in the exercised arm.

Results: Exercise-induced venous oxygen desaturation was smaller in patients with MM ({Delta} - 7 ± 5%) than in subjects with muscular dystrophy ({Delta} - 38 ± 2%; p = 0.00001) and healthy subjects ({Delta} - 43 ± 2%; p = 0.0000002). MVC and exercise blood flow were similar in patients with MM (18 ± 3 kg; 436 ± 65 mL/min) and patients with muscular dystrophy (15 ± 3 kg; 460 ± 85 mL/min), but were higher in healthy subjects (32 ± 4 kg; 630 ± 58 mL/min; p < 0.03). In seven patients with MM and seven patients with McArdle disease, studied with a slightly different protocol, exercise-induced oxygen desaturation was also impaired in MM ({Delta} - ± 5%) compared with McArdle disease ({Delta} - 26 ± 3%; p = 0.007).

Conclusion: Oxygen desaturation in venous blood from exercising muscle is markedly lower in patients with mitochondrial myopathy than in subjects with other muscle diseases and healthy subjects, suggesting that a forearm exercise test can be a diagnostic screening tool for mitochondrial myopathy.




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