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May 1938

PATHOGENESIS AND TREATMENT OF MYOTONIA CONGENITA: FURTHER OBSERVATIONS

Author Affiliations

CHICAGO
From the Department of Pediatrics and the Department of Physiological Chemistry of the University of Illinois College of Medicine.

Am J Dis Child. 1938;55(5):945-965. doi:10.1001/archpedi.1938.01980110051004
Abstract

The successful treatment of an infant with myotonia congenita (Thomsen's disease) was described in a previous paper.1 Observations were also presented on an adult with myotonia congenita in which the same treatment proved to be ineffective. The present report is concerned with the subsequent study of the two previous cases and with observations on two new patients with myotonia congenita.

Two pertinent studies have been published on the creatine-creatinine metabolism in myopathic states (including myotonia congenita) since our last communication. Adams and others2 found a slight degree of creatinuria in a woman with Thomsen's disease and an increase of creatine in the urine when aminoacetic acid was administered. Milhorat and Wolff3 stated:

In myotonia congenita no abnormality in the metabolism of creatine or creatinine could be demonstrated by the methods employed. Like normal subjects, patients with this condition eliminate no creatine, or only minimal amounts spontaneously, and

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