New Genetic Mutation in a Patient with Charcot-Marie-Tooth Disease

Abstract

We present the case of a patient affected by Charcot-Marie-Tooth (CMT) disease with a mutation which has not yet been described.The patient is a 39 year old man who was diagnosed during childhood with CMT disease type 1. His mother suffers from the same condition, with mild clinical involvement. His father and sister are healthy.At the end of his adolescence, the patient already presented with significant distal amyotrophy in hands and feet, with weakness, claw hand, high arch and difficulty to walk on tiptoe or heels, with steppage gait. He shows general areflexia and slight tactile hypoesthesia and distal hypopallesthesia. The physical examination results have not shown significant changes over the last years. Neurophysiological studies have always revealed a decrease in conduction velocity and in the amplitude of motor evoked potentials (last study: 2013, with 21 m/s and 0.2 mV in the median nerve and 23.9 m/s and 0.3 mV in the ulnar nerve), associated to an impossibility to evoke the sensory and the somatosensory potentials. The patient shows severe manipulatory disability and disability of walking, and he is currently trying to have children.