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Vestibular impairment in Charcot-Marie-Tooth disease type 4C
  1. Herminio Pérez-Garrigues1,
  2. Rafael Sivera2,
  3. Juan Jesús Vílchez2,3,4,
  4. Carmen Espinós5,6,7,
  5. Francesc Palau5,6,8,
  6. Teresa Sevilla2,3,4
  1. 1 Departments of Otology, Valencia, Spain
  2. 2 Departments of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain
  3. 3 Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain
  4. 4 Department of Medicine, Ciudad Real, Spain
  5. 5 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain
  6. 6 Program on Rare and Genetic Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
  7. 7 Department of Genetics, University of Valencia, Ciudad Real, Spain
  8. 8 School of Medicine, University of Castilla-La Mancha, Ciudad Real, Spain
  1. Correspondence to Rafael Sivera, Hospital U. i P. La Fe, Bulevar Sur s/n, 46024-Valencia, Spain; rafasivera{at}


Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness. The objective of the current study is to determine whether the imbalance in CMT4C is caused only by reduced proprioceptive input or if vestibular nerve involvement is an additional factor. We selected 10 CMT4C patients and 10 age-matched and sex-matched controls. We performed a comprehensive evaluation of the vestibular system, including video Head Impulse Test, bithermal caloric test, galvanic stimulation test and skull vibration-induced nystagmus test. None of the patients experienced dizziness, spontaneous or gaze-evoked nystagmus, but all had significant vestibular impairment when tested when compared to controls. Seven had completely unexcitable vestibular systems and abnormal vestibuloocular reflex. There was no correlation between the degree of vestibulopathy and age or clinical severity. Significant vestibular impairment is a consistent finding in CMT4C and is present early in disease evolution. The profound imbalance that is so disabling in these patients may result from a combination of proprioceptive loss and vestibular neuropathy, and this would modify the recommended rehabilitation strategies.


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