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Article
August 1914

CLINICAL AND METABOLISM STUDIES IN A CASE OF MYOTONIA CONGENITA—THOMSEN'S DISEASE

Author Affiliations

PITTSBURGH

From the Wards of St. Francis Hospital and the Biochemical Laboratory of the University of Pittsburgh.

Arch Intern Med (Chic). 1914;XIV(2):263-274. doi:10.1001/archinte.1914.00070140120005
Abstract

I. INTRODUCTION  In this paper we present the clinical history of a case of myotonia congenita together with a metabolic study of the patient. The clinical side of the disease has been well summarized and the literature reviewed by Hale White.1 Therefore we shall comment only on those features of the condition brought out by our metabolism study.

II. CLINICAL HISTORY OF CASE 

Patient.  —G. M., Austrian, male, single, aged 22, was admitted to the medical service of St. Francis Hospital, Aug. 12, 1912, complaining of stiffness and cramps in the muscles on first attempting movements.

Present Illness.  —The present condition was first noticed by the patient at the age of 12 while a student at the gymnasium. At that time he became conscious of a stiffness about the knees and legs, and found that he could not take so active a part in the games as

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