Sensory manifestations in Charcot-Marie-Tooth disease

J Peripher Nerv Syst. 2004 Mar;9(1):7-14. doi: 10.1111/j.1085-9489.2004.09103.x.

Abstract

Involvement of sensory nerves in Charcot-Marie-Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neurophysiological, and genetic features and classified in CMT type 1 (CMT1) (20 patients, including 14 with CMT1A) and CMT type 2 (CMT2) (32 patients). Positive sensory symptoms were reported by 28 patients (54%), including neuropathic pain in 6 patients. Pain, either neuropathic or nociceptive, was present in 29 patients (56%) and in 15 patients as a main symptom. Positive sensory symptoms were present in 24 of 32 CMT2 patients (75%) and in 4 of 20 CMT1 patients (20%) (p < 0.001); there was a presenting manifestation in 11/32 CMT2 patients vs. 1/20 in CMT1 patients (p = 0.018), and one of the main features in 6/32 CMT2 patients vs. 1/20 CMT1 patients. Frequency of positive sensory symptoms in CMT1A patients was similar to that of the entire CMT1 group. Within the CMT2 group, patients with positive sensory symptoms as a main or onset feature (11 patients) had significantly later onset (median 57 vs. 25 years; p = 0.042) and less severely impaired motor action potentials than CMT2 patients without positive sensory symptoms (8 patients). Nociceptive pain was especially frequent in CMT1A patients (10/14, 71%). Sensory manifestations in CMT seem more frequent than previously thought, especially in CMT2; however, their frequency may be different in the genetic subtypes of the disease and/or an expression of phenotypic variability. Sensory symptoms, and in particular pain, may represent an important issue in the management of CMT patients, especially in a physical medicine approach.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Electrophysiology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pain / physiopathology
  • Prospective Studies
  • Sensation Disorders / genetics
  • Sensation Disorders / pathology
  • Sensation Disorders / physiopathology*
  • Sural Nerve / pathology