Sensory manifestations in Charcot-Marie-Tooth disease

• Published in: Journal of the peripheral nervous system 2004-03, Vol.9 (1), p.7-14
• Main Authors: Gemignani, Franco, Melli, Giorgia, Alfieri, Sara, Inglese, Cristina, Marbini, Adriana
• Format: Article
• Language: English
• Subjects: Adult; Age of Onset; Aged; Aged, 80 and over; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - pathology; Charcot-Marie-Tooth Disease - physiopathology; CMT1; CMT2; Electrophysiology; Female; Humans; Male; Middle Aged; pain; Pain - physiopathology; paresthesia; positive sensory symptoms; Prospective Studies; Sensation Disorders - genetics; Sensation Disorders - pathology; Sensation Disorders - physiopathology; Sural Nerve - pathology
• ISSN: 1085-9489; 1529-8027
• DOI: 10.1111/j.1085-9489.2004.09103.x

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