Comparison of CMT1A and CMT2: similarities and differences.
To evaluate the clinical and electrophysiological similarities and differences between two large groups of patients with Charcot-Marie-Tooth disease, i.e. CMT1A and CMT2, we performed a post hoc comparison of clinical and electrophysiological data. Most CMT1A and CMT2 patients had the classical CMT phenotype. Age of onset was significantly later in CMT2. Total areflexia was present in approximately half of the CMT1A patients whereas it was rare in CMT2. Foot deformities and weakness of knee extensor and foot dorsal flexor muscles were more frequent in CMT1A. Median nerve motor nerve conduction velocities (MNCV) were always less than 38 m/s in CMT1A patients, whereas this was also the case in 16% of the CMT2 patients. Sensory nerve conduction velocities showed less overlap. In both CMT1A and CMT2 CMAP and SNAP amplitudes were often reduced or not obtainable in the legs. In CMT1A, SNAP amplitude was more reduced and SNAP duration more prolonged than in CMT2. We conclude that there are no robust clinical signs or symptoms that differentiate between CMT1A and CMT2 patients. Electrodiagnostical studies show a length-dependent motor and sensory axonal dysfunction in both CMT-types. Additional SNAP and SNCV evaluation may be helpful in focusing molecular genetic analysis in the occasional case of CMT2 showing slow motor nerve conduction velocities overlapping with CMT1A values. The reduction of CMAP and SNAP amplitudes in CMT1A is probably a combined effect of demyelination and axonal dysfunction.
Bienfait
Henriette M E
HM
Department of Neurology, H2-222, Academic Medical Center, University of Amsterdam, PO box 22660, 1100, DE, Amsterdam, The Netherlands.
Verhamme
Camiel
C
van Schaik
Ivo N
IN
Koelman
Johannes H T M
JH
de Visser
Bram W Ongerboer
BW
de Haan
Rob J
RJ
Baas
Frank
F
van Engelen
Baziel G M
BG
de Visser
Marianne
M
D000200:Action Potentials / Q000502:physiology; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000145:classification* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D018709:Statistics, Nonparametric