Spinal charcot-marie-tooth disease: A reappraisal

Authors

  • Perrine Devic MD,

    1. Université Lyon I, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie Fonctionnelle et d'Epileptologie, 59 Bd Pinel, 69003 Lyon, France
    2. Université Lyon I, Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Centre de Référence Maladies Neuromusculaires Rares, Lyon, France
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  • Philippe Petiot MD,

    1. Université Lyon I, Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Centre de Référence Maladies Neuromusculaires Rares, Lyon, France
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  • François Mauguière MD, PhD

    Corresponding author
    1. Université Lyon I, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie Fonctionnelle et d'Epileptologie, 59 Bd Pinel, 69003 Lyon, France
    • Université Lyon I, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie Fonctionnelle et d'Epileptologie, 59 Bd Pinel, 69003 Lyon, France
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Abstract

Introduction: Distal hereditary motor neuropathy (dHMN) is characterized by isolated distal muscle atrophy without sensory deficit. Nevertheless, clinical sensory loss has been reported despite preserved sensory nerve conduction in a few patients, thus differentiating these cases from the classical type 2 Charcot-Marie-Tooth disease (CMT2). Methods: We report 4 patients who presented with clinical sensory and motor neuropathy and normal peripheral sensory nerve conduction studies and were investigated with complete electrophysiological studies, including somatosensory evoked potentials (SEP). Results: These patients had a clinical presentation of classical CMT with isolated axonal motor neuropathy suggestive of dHMN. Interestingly, tibial nerve SEPs showed abnormalities suggestive of proximal involvement of dorsal roots that may explain the clinical somatosensory disturbances. Conclusions: These cases support the concept of spinal CMT that should be recognized as an intermediate form between dHMN and CMT2. SEP recording was helpful in defining a more precise phenotype of spinal CMT. Muscle Nerve 46: 603–607, 2012

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