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July 1958

Paramyotonia Congenita

Author Affiliations

Bethesda, Md.

From the Department of Health, Education, and Welfare, National Institutes of Health, National Institute of Neurological Diseases and Blindness, Medical Neurology Branch, Bethesda, Md.; and Walter Reed Army Medical Center, Washington, D. C.

AMA Arch NeurPsych. 1958;80(1):1-9. doi:10.1001/archneurpsyc.1958.02340070019001
Abstract

Considerable controversy exists in the literature regarding many aspects of myotonia, in particular paramyotonia congenita. Eulenberg1 originally 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.2-4 An 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

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