Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.

IF 2.5 Q2 CLINICAL NEUROLOGY Tremor and Other Hyperkinetic Movements Pub Date : 2024-02-08 eCollection Date: 2024-01-01 DOI:10.5334/tohm.846

Rohini Kumar, Jamie Blackband, Varun Jain, Lee Kugelmann, Sub H Subramony, Aparna Wagle Shukla

{"title":"Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.","authors":"Rohini Kumar, Jamie Blackband, Varun Jain, Lee Kugelmann, Sub H Subramony, Aparna Wagle Shukla","doi":"10.5334/tohm.846","DOIUrl":null,"url":null,"abstract":"Background: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy.Phenomenology shown: This video demonstrates irregular, jerky bilateral kinetic, postural, rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient with CMT disease.Educational value: Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy.Highlights: This video abstract depicts a bilateral hand tremor characteristic of Roussy-Lévy syndrome seen in patients with Charcot-Marie-Tooth disease neuropathy. The significance of the abstract lies in the phenomenology and the physiology of the tremor seen in patients with genetically confirmed duplication of PMP22 gene.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"6"},"PeriodicalIF":2.5000,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10854409/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tremor and Other Hyperkinetic Movements","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5334/tohm.846","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy.

Phenomenology shown: This video demonstrates irregular, jerky bilateral kinetic, postural, rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient with CMT disease.

Educational value: Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy.

Highlights: This video abstract depicts a bilateral hand tremor characteristic of Roussy-Lévy syndrome seen in patients with Charcot-Marie-Tooth disease neuropathy. The significance of the abstract lies in the phenomenology and the physiology of the tremor seen in patients with genetically confirmed duplication of PMP22 gene.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

鲁西-莱维综合征：一名 CMT 神经病变患者的趾骨凹陷、腱反射障碍、肌萎缩、步态共济失调和上肢震颤。

背景：鲁西-莱维综合征（RLS）的特征是家族性常染色体显性夏科-玛丽-牙神经病（CMT）患者出现姿势性手震颤：这段视频展示了一名 CMT 患者左右手不规则、生涩的双侧运动性、姿势性、静止性震颤，以及趾空洞症和步态共济失调：教育意义：趾腔畸形、腱反射障碍、感觉共济失调和上肢震颤应引起对 CMT 神经病变的重视：本视频摘要描述了在 Charcot-Marie-Tooth 病神经病变患者中出现的具有 Roussy-Lévy 综合征特征的双侧手部震颤。摘要的意义在于，经基因证实 PMP22 基因重复的患者会出现震颤的现象学和生理学。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊