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Artículo en Inglés | MEDLINE | ID: mdl-38344215

RESUMEN

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.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Pie Cavo , Humanos , Enfermedad de Charcot-Marie-Tooth/genética , Temblor/etiología , Ataxia de la Marcha/etiología , Reflejo Anormal , Tendones
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