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Neuromuscul Disord. 2015 Aug;25(8):640-5. doi: 10.1016/j.nmd.2015.05.003. Epub 2015 May 11.

The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease.

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Biomedical Technology Department, IRCCS Foundation Don Gnocchi Onlus, Milan, Italy. Electronic address:
Unit of Clinic of Central and Peripheral Degenerative Neuropathies, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Biomedical Technology Department, IRCCS Foundation Don Gnocchi Onlus, Milan, Italy.
Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Genoa, Italy.
Centro S. Maria della Pace, Foundation Don Gnocchi Onlus, Rome, Italy.
Polo Riabilitativo del Levante Ligure, Foundation Don Gnocchi Onlus, Sarzana, Italy.


Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. CMT1 is primarily demyelinating, CMT2 is primarily axonal, and CMTX1 is characterized by both axonal and demyelinating abnormalities. We investigated the role of somatosensory and muscular deficits on quiet standing and postural stabilization in patients affected by different forms of CMT, comparing their performances with those of healthy subjects. Seventy-six CMT subjects (CMT1A, CMT2 and CMTX1) and 41 healthy controls were evaluated during a sit-to-stand transition and the subsequent quiet upright posture by means of a dynamometric platform. All CMT patients showed altered balance and postural stabilization compared to controls. Multivariate analysis showed that in CMT patients worsening of postural stabilization was related to vibration sense deficit and to dorsi-flexor's weakness, while quiet standing instability was related to the reduction of pinprick sensibility and to plantar-flexor's weakness. Our results show that specific sensory and muscular deficits play different roles in balance impairment of CMT patients, both during postural stabilization and in static posture. An accurate evaluation of residual sensory and muscular functions is therefore necessary to plan for the appropriate balance rehabilitation treatment for each patient, besides the CMT type.


Balance impairment; Charcot–Marie–Tooth disease; Large and small sensory fibers; Muscle weakness; Rehabilitation

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