Rohini Kumar, Jamie Blackband, Varun Jain, Lee Kugelmann, Sub H Subramony, Aparna Wagle Shukla
{"title":"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。","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":"<p><strong>Background: </strong>Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy.</p><p><strong>Phenomenology shown: </strong>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.</p><p><strong>Educational value: </strong>Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy.</p><p><strong>Highlights: </strong>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.</p>","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":"{\"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\":\"<p><strong>Background: </strong>Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy.</p><p><strong>Phenomenology shown: </strong>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.</p><p><strong>Educational value: </strong>Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy.</p><p><strong>Highlights: </strong>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.</p>\",\"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}","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}
Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.
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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