On the Conceptual History of Myotonia Congenita: The Contributions of Julius Thomsen and Adolph Seeligmüller

Abstract

Myotonia congenita was first described as an entity in 1876 by Julius Thomsen. Shortly later in the same year it was criticized by Adolph Seeligmüller who extended the clinical findings. Charles Bell, Moritz Benedict and Ernst von Leyden had already partly described the symptoms of the disease before 1876, but did not recognize this as a new entity. A comparison of the publications of Thomsen and Seeligmüller in 1876 and of Seeligmüller's textbook published in 1887, as well as the today's genetically proven disease shows that Seeligmüller correctly criticized two aspects of Thomsen's publication: (i) Thomsen suspected the pathogenesis to be in "one half of the brain's activity, the will" with "seat in the cerebrospinal system" and (ii) he made the assumption of a coordination disorder in the sense of an ataxia [1]. Due to a better understanding of the pathogenesis enabled by Seeligmüller's postulate of a "more difficult mobile muscle substance" [2] without excluding an inborn affection of the lateral cords of the spinal cord, it would have been entirely justified to recognize Seeligmüller's contribution to the conceptual history of Myotonia congenita by including his name in the eponym [3].