Clinical analysis of a Charcot-Marie-Tooth disease type 2F family in china / 临床神经病学杂志

ABSTRACT

Objective To analyze the clinical features of an autosomal dominant Charcot-Marie-Tooth disease(CMT) type 2F family in china.Methods Retrospective analysis were made to show the clinical manifestations and electrophysiological data of 3 patients who come from an autosomal dominant CMT2F family. Results The clinical manifestations of 3 patients were characterized by later onset (from 37 to 60 years)and mild sensory impairments. Right hearing of one patient was lost progressively after the onset. Nerve conduction studies showed there were slow sensory and motor conduction velocities or no nerve action potentials in lower limbs but normal or mildly slow in upper limbs. Somatosensory evoked potentials on tibial nerve indicated both central and peripheral somesthesia gateway were involved. Motor evoked potentials detection found the conduction velocities in the peripheral motor gateway were slowed in lower limbs. Brainstem auditory evoked potentials showed right peripheral acoustic pathway was severely impaired but left was normal. Bilateral visual evoked potentials were normal. Conclusion Patients with CMT2F had distinct characteristics in clinical manifestations and electrophysiological data which would help clinical typing and diagnosis of CMT.