A forearm exercise screening test for mitochondrial myopathy

Jensen, Tina Dysgaard; Kazemi-Esfarjani, Pedram; Skomorowska, Elwira; Vissing, John

doi:10.1212/wnl.58.10.1533

Cited by 55 publications

(41 citation statements)

References 21 publications

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“…7 All patients had exercise intolerance, and all patients with defects of carbohydrate and lipid metabolism had experienced repeated episodes of exerciseinduced myoglobinuria and muscle pain. The study was approved by the Scientific-Ethical Committee of Copenhagen (no.…”

Section: Subjects and Methods Subjectsmentioning

confidence: 99%

A diagnostic cycle test for McArdle's disease

Vissing

Haller

2003

Annals of Neurology

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We investigated whether the second wind phenomenon (ie, a decrease in heart rate and perceived exertion during exercise) is pathognomonic for McArdle's disease. Twenty-four patients with McArdle's disease, 17 healthy subjects, and 25 patients with other inborn errors of muscle metabolism cycled a constant workload for 15 minutes. In McArdle's disease patients, heart rate consistently decreased by 35 +/- 3 beats per minute from the 7(th) to the 15(th) minute of exercise, whereas heart rate increased progressively with exercise in all 42 control subjects. The findings indicate that cycling at a moderate, constant workload provides a specific, sensitive, and simple diagnostic test for McArdle's disease.

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Section: Subjects and Methods Subjectsmentioning

confidence: 99%

A diagnostic cycle test for McArdle's disease

Vissing

Haller

2003

Annals of Neurology

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“…In addition, performing forearm exercise testing coupled with venous oxygen saturation measurements in a patient with mitochondrial disease will reveal "arterialized" venous blood. This occurs because mitochondrial dysfunction in skeletal muscle results in its inability to extract oxygen from blood [49,50].…”

Section: Provocative Clinical Testingmentioning

confidence: 99%

The in-depth evaluation of suspected mitochondrial disease

Haas

Parikh

Falk

et al. 2008

Molecular Genetics and Metabolism

318

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Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multiorgan system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These include blood and tissue histochemical and analyte measurements, neuroimaging, provocative testing, enzymatic assays of tissue samples and cultured cells, as well as DNA analysis. As interpretation of results from these multifaceted investigations can become quite complex, the Diagnostic Committee of the Mitochondrial Medicine Society developed this review to provide an overview of currently available and emerging methodologies for the diagnosis of primary mitochondrial disease, primarily focusing on disorders characterized by impairment of oxidative phosphorylation. The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease.

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“…Eight of the 16 MM patients and eight of the healthy subjects performed a handgrip test as previously described [12]. In short, exercise consisted of intermittent handgrip (squeeze one second; rest one second) for three minutes, at 40% of MVC.…”

Section: Handgrip Exercise Testingmentioning

confidence: 99%

31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy

et al. 2007

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Clinical phenotypes of persons with mitochondrial DNA (mtDNA) mutations vary considerably. Therefore, diagnosing mitochondrial myopathy (MM) patients can be challenging and warrants diagnostic guidelines. (31)phosphorous magnetic resonance spectroscopy ((31)P-MRS) have been included as a minor diagnostic criterion for MM but the diagnostic strength of this test has not been compared with that of other commonly used diagnostic procedures for MM. To investigate this, we studied seven patients with single, large-scale deletions-, nine with point mutations of mtDNA and 14 healthy subjects, who were investigated for the following: 1) (31)P-MRS of lower arm and leg muscles before and after exercise, 2) resting and peak-exercise induced increases of plasma lactate, 3) muscle morphology and -mitochondrial enzyme activity, 4) maximal oxygen uptake (VO(2max)), 5) venous oxygen desaturation during handgrip exercise and 6) a neurological examination. All MM patients had clinical symptoms of MM, > 2% ragged red fibers in muscle, and impaired oxygen desaturation during handgrip. Fourteen of 16 patients had impaired VO(2max), 10/16 had elevated resting plasma lactate, and 10/11 that were investigated had impaired citrate synthase-corrected complex I activity. Resting PCr/P(i) ratio and leg P(i) recovery were lower in MM patients vs. healthy subjects. PCr and ATP production after exercise were similar in patients and healthy subjects. Although the specificity for MM of some (31)P-MRS variables was as high as 100%, the sensitivity was low (0-63%) and the diagnostic strength of (31)P-MRS was inferior to the other diagnostic tests for MM. Thus, (31)P-MRS should not be a routine test for MM, but may be an important research tool.

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A forearm exercise screening test for mitochondrial myopathy

Abstract: 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.

Cited by 55 publications

References 21 publications

A diagnostic cycle test for McArdle's disease

A diagnostic cycle test for McArdle's disease

The in-depth evaluation of suspected mitochondrial disease

31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy

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