非营养不良性肌强直的手部握力肌强直的定量测量。
A quantitative measure of handgrip myotonia in non-dystrophic myotonia.
机构信息
Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
出版信息
Muscle Nerve. 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402.
INTRODUCTION
Non-dystrophic myotonia (NDM) is characterized by myotonia without muscle wasting. A standardized quantitative myotonia assessment (QMA) is important for clinical trials.
METHODS
Myotonia was assessed in 91 individuals enrolled in a natural history study using a commercially available computerized handgrip myometer and automated software. Average peak force and 90% to 5% relaxation times were compared with historical normal controls studied with identical methods.
RESULTS
Thirty subjects had chloride channel mutations, 31 had sodium channel mutations, 6 had DM2 mutations, and 24 had no identified mutation. Chloride channel mutations were associated with prolonged first handgrip relaxation times and warm-up on subsequent handgrips. Sodium channel mutations were associated with prolonged first handgrip relaxation times and paradoxical myotonia or warm-up, depending on underlying mutations. DM2 subjects had normal relaxation times but decreased peak force. Sample size estimates are provided for clinical trial planning.
CONCLUSION
QMA is an automated, non-invasive technique for evaluating myotonia in NDM.
简介
非营养不良性肌强直（NDM）的特征是肌强直而无肌肉萎缩。标准化的定量肌强直评估（QMA）对于临床试验很重要。
方法
使用市售的计算机化手握测力计和自动化软件，对 91 名参加自然病史研究的个体进行肌强直评估。将平均峰值力和 90%至 5%的弛豫时间与使用相同方法研究的历史正常对照组进行比较。
结果
30 名受试者有氯离子通道突变，31 名有钠离子通道突变，6 名有 DM2 突变，24 名无明确突变。氯离子通道突变与首次握力弛豫时间延长和随后握力的热身有关。钠离子通道突变与首次握力弛豫时间延长以及反常性肌强直或热身有关，具体取决于潜在的突变。DM2 患者的弛豫时间正常，但峰值力降低。提供了临床试验计划的样本量估计。
结论
QMA 是一种用于评估 NDM 肌强直的自动化、非侵入性技术。
Zotero 插件