Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMTD), or peroneal muscular atrophy (PMA), is an uncommon inherited affection of peripheral nerve and probably root, spinal cord, and muscle of young people. Many aspects of the pathology, etiology, and genetics are unresolved and demand a review of previous findings as well as new approaches in future investigations. In this light, a family containing five male siblings with this illness has been studied. From a review of the literature, it appears this is the first time that: (1) a 45-year follow-up study of this progressive disorder has been attempted; (2) chromosomal analysis has been performed in this heredofamilial disease; and (3) adequate documentation of the associated mental deficiency has been obtained, whereas previous reports have only noted impressions of such. In addition, the development of concepts and controversies regarding certain genetic, pathological, and clinical aspects has been chronologically summarized.