Clinical and genetic characteristics of Charcot-Marie-Tooth disease / 临床神经病学杂志

ABSTRACT

Objective To evaluate the clinical and genetic characteristics of Charcot-Marie-Tooth disease (CMT). Methods The clinical materials and hereditary histories of 110 cases in 70 families with CMT were analyzed retrospectively.Results The ratio of male to female was 2.03∶1. The age at onset was from 1 to 61 years old and the mean age was 19.1 years old. 78.2% of the patients had CMT before 30 years old.70 patients (63.6%) had positive family history and they showed mostly autosomal dominant inheritance. The rate of consanguinity was 6.9%. In the CMT group, we could find the amyotrophy of legs in 106 patients (96.4%), distal muscle weakness and atrophy of the upper limbs in 48 patients (43.6%), stork legs in 64 patients (58.2%), pes cavus in 68 patients (61.8%), decreased or diminished tendom reflexes in 108 patients (98.2%). Electromyography examination in 61 patients showed neurogenic damages. Muscle biopsy in 37 patients showed neurogenic amyotrophy. Sural nerve biopsy was performed in 25 patients. 20 patients were charactered by demyelination, Schwann cell proliferation and/or “onion bulbs” change and 5 patients were associated with axis cylinder degeneration, but tomaculous change was not found in all the 25 patients.Conclusions In the CMT group, the onset age was mostly in childhood and adolescence. The male CMT cases were more than the females. Autosomal dominant was the mostly frequent inheretance. Neuroelectrophysiology and pathological examination are important for the diagnosis and type of CMT.