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描述FSHD中的表型:全面临床评估表格的更新

Giulia Ricci¹, Francesca Torri², Lucia Ruggiero³

¹Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. giulia.ricci@unipi.it.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

|June 12, 2025

概括

一个修订后的综合临床评估表格 (CCEF-R) 简化了临床试验的患者分层,以缓解肌肌缩症 (FSHD) 的临床试验. 该工具有助于理解FSHD表型,并指导遗传咨询.

科学领域:

神经学神经学
遗传学是一个遗传学.
临床研究临床研究

背景情况:

面骨肌缩症 (FSHD) 呈现出显著的临床变异性,遗传联系和疾病进展尚不清楚.
正确的患者分层是至关重要的,因为FSHD临床试验的方法.

研究的目的:

开发一个简化和用户友好的综合临床评估表格 (CCEF) 的版本,用于实际临床使用.
提高FSHD患者表型的描述和分层,用于研究和临床决策.

主要方法:

一个由CCEF开发人员和专家临床医生的工作组修订了原来的CCEF.
修订版 (CCEF-R) 被外部专家临床医生审查和批准,供国际使用.

主要成果:

CCEF-R保留了验证的CCEF的核心结构,但具有简化图形.
修订后的表格侧重于关键的历史和神经学发现,以提高临床效用.

结论:

与遗传标记相结合的表型分类对于FSHD诊断,遗传咨询和基因型-表型相关性至关重要.
CCEF-R可以显著帮助FSHD患者分层进行临床试验,并支持基于证据的医疗决策.

关键词:

在CCEF的基础上,CCEF是CCEF.临床类别临床类别临床类别临床可变性临床可变性这是FSHD的FSHD.基因型表型相关性相关性

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