A Study of Paramyotonia Congenita

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Abstract
This report discusses the status of the paramyotonia congenita described by Eulenberg1 with relation to other types of myotonia. The classification of myotonic disorders has caused controversy for decades. The dispute has arisen primarily over whether myotonic dystrophy and myotonia congenita should be identified as separate diseases or merely variants of the same disorder. A discussion of paramyotonia frequently has been added but usually given secondary importance. Most investigators have concluded that paramyotonia is only a variant of the other forms in which symptoms are aggravated by cold. This clinical analysis of a family with paramyotonia indicates that it is an independent entity. To avoid confusion in this paper, the term "paramyotonia" will be used to describe the disease reported by Eulenberg consisting of myotonia worsened by cold, weakness, and dominant inheritance. The term "myotonia" will be used to describe inability to relax a muscle group promptly after contraction.

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