
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Thomsen disease
Introduction
Overview
Overview
Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction. The affected muscle functions normally after a few repetitions.
Presentation
Presentation
The disorder only affects voluntary muscles, so involuntary muscles such as the heart or muscles involved in the digestion process are not affected.
Treatment and prognosis
Treatment and prognosis
There is no known cure but some drugs may relieve symptoms. These include: Dilantin, Procainamide, Phenytoin and Mexiletine.
The disease is not fatal.
History
History
Julius Thomsen, a Danish physician, was the first to describe the disease, citing symptoms of his own family members.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
