Sarcolemmal dysfunction in facioscapulohumeral dystrophy: An assessment using muscle velocity recovery cycles

IF 3.7 3区医学 Q1 CLINICAL NEUROLOGY

Clinical Neurophysiology Pub Date : 2025-03-10 DOI:10.1016/j.clinph.2025.02.272

Mitchell J. Lycett , Kishore R. Kumar , Christina Liang , Karl Ng

{"title":"Sarcolemmal dysfunction in facioscapulohumeral dystrophy: An assessment using muscle velocity recovery cycles","authors":"Mitchell J. Lycett , Kishore R. Kumar , Christina Liang , Karl Ng","doi":"10.1016/j.clinph.2025.02.272","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><div>There is a need to develop novel facioscapulohumeral dystrophy (FSHD) biomarkers for use in clinical trials. We examined the muscle excitability properties in FSHD and their use as biomarkers of disease severity.</div></div><div><h3>Methods</h3><div>Muscle velocity recovery cycle (MVRC) and frequency ramp recordings were performed on the tibialis anterior (TA) and trapezius muscles in subjects with FSHD. Markers of disease severity including symptom severity, muscle dynamometry and the FSHD-COM functional scale were recorded for disease correlation. Recordings from 20 FSHD subjects were compared to 74 TA and 33 trapezius normal controls.</div></div><div><h3>Results</h3><div>FSHD recordings from distal and proximal muscles demonstrated significantly reduced early and late muscle supernormality measures. There was a moderate correlation between late supernormality changes multiple conditioning in the trapezius and quadriceps dynamometry. Frequency ramp latency changes were significantly blunted in FSHD subjects.</div></div><div><h3>Conclusions</h3><div>The findings are consistent with resting muscle membrane potential depolarisation, but correlations with markers of disease severity were limited.</div></div><div><h3>Significance</h3><div>The pathophysiology of FSHD involves not only ultrastructural changes to muscle and its supporting structures, but functional changes in the electrical properties of the muscle membrane. Muscle membrane properties are perturbed early in the disease course, and could be considered as a potential disease biomarker.</div></div>","PeriodicalId":10671,"journal":{"name":"Clinical Neurophysiology","volume":"173 ","pages":"Pages 86-95"},"PeriodicalIF":3.7000,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neurophysiology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1388245725003232","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Objective

There is a need to develop novel facioscapulohumeral dystrophy (FSHD) biomarkers for use in clinical trials. We examined the muscle excitability properties in FSHD and their use as biomarkers of disease severity.

Methods

Muscle velocity recovery cycle (MVRC) and frequency ramp recordings were performed on the tibialis anterior (TA) and trapezius muscles in subjects with FSHD. Markers of disease severity including symptom severity, muscle dynamometry and the FSHD-COM functional scale were recorded for disease correlation. Recordings from 20 FSHD subjects were compared to 74 TA and 33 trapezius normal controls.

Results

FSHD recordings from distal and proximal muscles demonstrated significantly reduced early and late muscle supernormality measures. There was a moderate correlation between late supernormality changes multiple conditioning in the trapezius and quadriceps dynamometry. Frequency ramp latency changes were significantly blunted in FSHD subjects.

Conclusions

The findings are consistent with resting muscle membrane potential depolarisation, but correlations with markers of disease severity were limited.

Significance

The pathophysiology of FSHD involves not only ultrastructural changes to muscle and its supporting structures, but functional changes in the electrical properties of the muscle membrane. Muscle membrane properties are perturbed early in the disease course, and could be considered as a potential disease biomarker.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

来源期刊

Clinical Neurophysiology 医学-临床神经学

CiteScore

8.70

自引率

6.40%

发文量

932

审稿时长

59 days

期刊介绍： As of January 1999, The journal Electroencephalography and Clinical Neurophysiology, and its two sections Electromyography and Motor Control and Evoked Potentials have amalgamated to become this journal - Clinical Neurophysiology. Clinical Neurophysiology is the official journal of the International Federation of Clinical Neurophysiology, the Brazilian Society of Clinical Neurophysiology, the Czech Society of Clinical Neurophysiology, the Italian Clinical Neurophysiology Society and the International Society of Intraoperative Neurophysiology.The journal is dedicated to fostering research and disseminating information on all aspects of both normal and abnormal functioning of the nervous system. The key aim of the publication is to disseminate scholarly reports on the pathophysiology underlying diseases of the central and peripheral nervous system of human patients. Clinical trials that use neurophysiological measures to document change are encouraged, as are manuscripts reporting data on integrated neuroimaging of central nervous function including, but not limited to, functional MRI, MEG, EEG, PET and other neuroimaging modalities.