The long exercise test as a functional marker of periodic paralysis.

Autor: Ribeiro A; Department of Clinical Neurophysiology, King's College Hospital, London, UK., Suetterlin KJ; Queen Square Centre for Neuromuscular Diseases, University College London, London, UK.; Department of Clinical Neurophysiology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK., Skorupinska I; Queen Square Centre for Neuromuscular Diseases, University College London, London, UK., Tan SV; Department of Neurology and Neurophysiology, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust and Department of Academic Neurosciences, Kings College London, London, UK., Morrow JM; Queen Square Centre for Neuromuscular Diseases, University College London, London, UK., Matthews E; Queen Square Centre for Neuromuscular Diseases, University College London, London, UK.; Atkinson-Morley Neuromuscular Centre, St George's University Hospitals NHS Foundation Trust, London, UK., Hanna MG; Queen Square Centre for Neuromuscular Diseases, University College London, London, UK., Fialho D; Department of Clinical Neurophysiology, King's College Hospital, London, UK.; Queen Square Centre for Neuromuscular Diseases, University College London, London, UK.
Jazyk: angličtina
Zdroj: Muscle & nerve [Muscle Nerve] 2022 May; Vol. 65 (5), pp. 581-585. Date of Electronic Publication: 2021 Dec 06.
DOI: 10.1002/mus.27465
Abstrakt: Aims: The aim of this study was to evaluate the sensitivity of the long exercise test (LET) in the diagnosis of periodic paralysis (PP) and assess correlations with clinical phenotypes and genotypes.
Methods: From an unselected cohort of 335 patients who had an LET we analyzed 67 patients with genetic confirmation of PP and/or a positive LET.
Results: 32/45 patients with genetically confirmed PP had a significant decrement after exercise (sensitivity of 71%). Performing the short exercise test before the LET in the same hand confounded results in four patients. Sensitivity was highest in patients with frequent (daily or weekly) attacks (8/8, 100%), intermediate with up to monthly attacks (15/21, 71%) and lowest in those with rare attacks (9/16, 56%) (p = .035, Mann-Whitney U-test). Patients with a positive LET without confirmed PP mutation comprised those with typical PP phenotype and a group with atypical features.
Discussion: In our cohort, the LET is strongly correlated with the frequency of paralytic attacks suggesting a role as a functional marker. A negative test in the context of frequent attacks makes a diagnosis of PP unlikely but it does not rule out the condition in less severely affected patients.
(© 2021 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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