Paramyotonia Congenita

Considerable controversy exists in the literature regarding many aspects of myotonia, in particular paramyotonia congenita. Eulenberg1originally described paramyotonia as a distinct syndrome. Since the original description, some authors have placed paramyotonia under the heading of neurosis, while others include it as a variant of myotonia congenita (Thomsen's disease). Paramyotonia is a relatively rare disorder, and only two pedigrees of the disease in the United States are to be found in the literature.2-4An additional pedigree, with 30 affected members, is presented, with a review of the literature and clarification of the characteristics of this disorder. The clinical and anatomical pathology will be discussed. The Syndrome A clinical syndrome must have singular characteristics, positive and negative, by which it can be identified and which are consistent. Dystrophia myotonica is considered, by some, a generic syndrome, and the establishment of separate clinical entities for the few patients who demonstrate