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

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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.

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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。

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来源期刊

Tremor and Other Hyperkinetic Movements CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

4.50%

发文量

审稿时长

6 weeks