Charcot-Marie-Tooth disease. Clinical study in 45 patients

Arquivos de neuro-psiquiatria
M R de FreitasG R de Freitas

Abstract

Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atr...Continue Reading

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Citations

Sep 1, 1995·Arquivos de neuro-psiquiatria·M R FreitasT M Escada
Sep 1, 1996·Arquivos de neuro-psiquiatria·L Chimelli
Nov 25, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·G DeuschlM Brin

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