Postural instability in Charcot-Marie-Tooth type 1A patients is strongly associated with reduced somatosensation

Abstract 

In order to determine the influence of somatosensory impairments, due to the loss of large myelinated fibres, on the postural stability of Charcot-Marie-Tooth 1A (CMT) patients, a cross-sectional balance assessment was done. Nine CMT patients were compared with eight patients with a distal type of Spinal Muscular Atrophy (SMA), and 11 healthy control subjects. The balance assessment consisted of four tasks: quiet barefoot standing on a stable versus compliant surface, with eyes opened or closed. Force plate signals were used to calculate the velocity of the centre of pressure of the ground reaction forces. The patients’ distal muscle force (MRC scale), vibration detection threshold (Rydel-Seiffer tuning fork) and superficial tactile sensation (Semmes-Weinstein monofilaments) were clinically assessed. Compared to the healthy subjects, postural stability of both patient groups was seriously impaired, however, increased visual dependency was only found in the CMT patients. The postural instability of the CMT patients correlated significantly with decreased vibration sense only. The strength of the correlation increased with task complexity. It is concluded that somatosensory deficits substantially contribute to impaired postural stability and increased visual dependency in CMT patients.

Keywords: Posture, Hereditary Motor and Sensory Neuropathy type I, Proprioception, Afferent pathways