A genealogical case of Charcot-Marie-Tooth disease presenting autosomal dominant inheritance.

Abstract

Charcot-Marie-Tooth disease, which was reported separately by Charcot, Marie and Tooth in 1886, is also called progressive neural muscular atrophy or peroneal muscular atrophy. This disease is considered to develop usually in patients over 20 years of age , beginning with paralysis of legs, especially common fibular nerve-supplied region, and then progressing slowly in the central direction, but with good vital prognosis. It is also indicated well for orthopedic functional reconstructive operation because of its paralysis involving only legs below knee joints. This time, we experienced a genealogical case of such disease presenting autosomal dominant inheritance, and reported here the results of its examination.