The role of electrodiagnosis with long exercise test in mcardle disease

Semplicini, Claudio; Hézode-Arzel, Marianne; Laforêt, Pascal; Béhin, Anthony; Léonard-Louis, Sarah; Hogrel, Jean‐Yves; Petit, François; Eymard, B.; Stojkovic, Tanya; Fournier, Emmanuel

doi:10.1002/mus.26074

Cited by 5 publications

(1 citation statement)

References 30 publications

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“…One was diagnosed with metabolic myopathy and was homozygous for the POLG variant G268A. It is already known that exercise test results may be abnormal in metabolic myopathy [ 35 ]. Slightly abnormal exercise test results were most common in the long exercise test with either immediate increase or decrease in CMAP amplitude after exercise if the comparison is made to normal values and EMG patterns described by Fournier [ 22 , 23 ].…”

Section: Discussionmentioning

confidence: 99%

A retrospective study of accuracy and usefulness of electrophysiological exercise tests

Periviita,

Jokela,

Palmio

et al. 2023

J Neurol

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Objectives This study aimed to determine the usefulness of electrophysiological exercise tests. The significance of slightly abnormal exercise tests was also examined. Methods We identified all the patients who had undergone exercise testing between February 2007 to June 2022 in Tampere University Hospital, Finland. Their medical records after diagnostic workup and exercise test reports were reviewed. A binary logistic regression was performed to evaluate the association between positive test result in short exercise test, long exercise test, or short exercise test with cooling and genetically confirmed skeletal muscle channelopathy or myotonic disorder. Results We identified 256 patients. 27 patients were diagnosed with nondystrophic myotonia, periodic paralysis, myotonic dystrophy type 1, myotonic dystrophy type 2, or other specified myopathy. 14 patients were suspected to have a skeletal muscle channelopathy, but pathogenic variants could not be identified. The remaining 215 patients were diagnosed with other conditions than skeletal muscle channelopathy or myotonic disorder. The combined sensitivity of exercise tests was 59.3% and specificity 99.1%. Abnormal exercise test result was associated with increased risk of skeletal muscle channelopathy or myotonic disorder (OR 164.3, 95% CI 28.3–954.6, p < 0.001). Conclusions Electrophysiological exercise test is not optimal to exclude skeletal muscle channelopathy. It may be useful if a skeletal muscle channelopathy is suspected and genetic testing is negative or indeterminate and further evidence is required. Slightly abnormal exercise test results are possible in various conditions and result from different aetiologies. There is a demand for neurophysiological studies with higher sensitivity to detect skeletal muscle channelopathies.

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Section: Discussionmentioning

confidence: 99%