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遗传性共济失调:分类和诊断方法的更新。

Genetic ataxias: update on classification and diagnostic approaches.

机构信息

Rush Parkinson's Disease and Movement Disorders Program, 1725 W Harrison St. Suite 755, Chicago, IL, 60612, USA.

出版信息

Curr Neurol Neurosci Rep. 2021 Feb 26;21(3):13. doi: 10.1007/s11910-021-01092-4.

Abstract

Ataxia encompasses a large group of rare disorders characterized by irregular movements, decreased coordination, imbalance, kinetic tremor, wide-based stance, and dysarthria. Evaluating ataxia can be challenging considering the volume of disorders and their complex pathologies involving diverse genetic and clinical factors. This is a comprehensive review of the genetic ataxia literature, presenting updated guidelines for differential diagnosis. Age, time course, and family history provide initial guidance for evaluation of ataxia. As genetic testing is increasingly utilized, new genes are discovered and phenotypes for existing disorders are expanded. This review assists physicians by offering a diagnostic roadmap for suspected hereditary ataxia based on the current literature.

摘要

共济失调包括一大组罕见疾病,其特征是运动不规则、协调能力下降、失衡、运动性震颤、宽基底姿势和构音障碍。考虑到疾病的数量及其涉及多种遗传和临床因素的复杂病理,评估共济失调具有挑战性。这是对遗传性共济失调文献的全面综述,提出了更新的鉴别诊断指南。年龄、病程和家族史为评估共济失调提供了初步指导。随着基因检测的广泛应用,新的基因被发现,现有疾病的表型也在扩大。本综述通过当前文献为疑似遗传性共济失调提供了诊断路线图,有助于医生进行诊断。

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