2 Families of Charcot-Marie-Tooth Disease

ABSTRACT

These are 2 cases report of the Characot-Marie-Tooth disease. One patient is a 21 year-old female with gait ataxia, foot drop, muscular atrophy in the both feet, pes cavus and equinovarus. On family history, her older and younger brothers and younger sister showed same symptoms and signs which is rather milder. On neurologic examination, there were atrophy, high arched feet, and steppage gait. There were decreased pain, temperature and touch sensation, and absence of position and vibration, and absence of DTR in lower extremities. On sensory nerve conduction velocity study, the amplitude of evoked action potential is very low. On motor NCV, there are markedly prolonged distal latency and markedly decreased conduction velocity. On EMG study, there are dencervated potentials at rest and reduced interference pattern at maximal contraction. The other patient is 62 year-old female with gait disturbance, foot drop, muscular atrophy in the both feet, pes cavus and equinovarus. On family history, her father, 2 younger brothers and her 3 nephews showed same degree or rather mild degree of symptoms and signs. The findings on physical, neurologic examination and EMG with NCV study are compatible with Charcot-Marie-Tooth disease.