Sensory manifestations in CMT - research from Italy

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Abstract from Journal of the Peripheral Nervous System. 2004

Mar;9(1):7-14.

Sensory manifestations in Charcot-Marie-Tooth disease.

Gemignani F, Melli G, Alfieri S, Inglese C, Marbini A.

Department of Neurosciences, University of Parma, Parma, Italy.

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.