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Myotonia congenita - Overview

Alternative Names

Thomsen's disease

Definition of Myotonia congenita:

Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.

Causes, incidence, and risk factors:

Myotonia congenita is caused by a change (mutation) to a gene. It is passed down from either one or both parents to the children (inherited).

Myotonia congenita is believed to be caused by a problem in the part of the muscle cells that are needed for muscles to relax. Abnormal repeated electrical discharges occur in the muscles, causing a stiffness called myotonia.

Superficial anterior muscles

Reviewed last on: 4/28/2008
Luc Jasmin, MD, PhD, Departments of Anatomy & Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Barohn RJ. Muscle diseases. Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 447.

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