PMID- 14871449
OWN - NLM
STAT- MEDLINE
DCOM- 20040428
LR  - 20191108
IS  - 1085-9489 (Print)
IS  - 1085-9489 (Linking)
VI  - 9
IP  - 1
DP  - 2004 Mar
TI  - Sensory manifestations in Charcot-Marie-Tooth disease.
PG  - 7-14
AB  - 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.
FAU - Gemignani, Franco
AU  - Gemignani F
AD  - Department of Neurosciences, University of Parma, Parma, Italy. gemignan@unipr.it
FAU - Melli, Giorgia
AU  - Melli G
FAU - Alfieri, Sara
AU  - Alfieri S
FAU - Inglese, Cristina
AU  - Inglese C
FAU - Marbini, Adriana
AU  - Marbini A
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - J Peripher Nerv Syst
JT  - Journal of the peripheral nervous system : JPNS
JID - 9704532
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Aged, 80 and over
MH  - Charcot-Marie-Tooth Disease/genetics/pathology/*physiopathology
MH  - Electrophysiology
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Pain/physiopathology
MH  - Prospective Studies
MH  - Sensation Disorders/genetics/pathology/*physiopathology
MH  - Sural Nerve/pathology
EDAT- 2004/02/12 05:00
MHDA- 2004/04/29 05:00
CRDT- 2004/02/12 05:00
PHST- 2004/02/12 05:00 [pubmed]
PHST- 2004/04/29 05:00 [medline]
PHST- 2004/02/12 05:00 [entrez]
AID - 09103 [pii]
AID - 10.1111/j.1085-9489.2004.09103.x [doi]
PST - ppublish
SO  - J Peripher Nerv Syst. 2004 Mar;9(1):7-14. doi: 10.1111/j.1085-9489.2004.09103.x.