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Myotonia congenita

Contents of this page:

Illustrations

Superficial anterior muscles
Superficial anterior muscles

Alternative Names    Return to top

Thomsen's disease; Becker's disease

Definition    Return to top

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

Causes    Return to top

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.

Symptoms    Return to top

The hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after contracting. For example, after a handshake, the person is only very slowly able to open and pull away his hand.

Early symptoms may include:

Children with myotonia congenita often appear to be muscular and well-developed. The child may not have symptoms of myotonia congenita until age 2 or 3.

Exams and Tests    Return to top

The doctor may ask if there is a family history of myotonia congenita.

Tests include:

Treatment    Return to top

Treatment for symptoms includes:

Outlook (Prognosis)    Return to top

People can do well with this condition. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal. Symptoms may improve later in life.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Call your health care provider if your child has symptoms of myotonia congenita.

Prevention    Return to top

Genetic counseling may be of interest to couples who want to have children and have a family history of myotonia congenita.

References    Return to top

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

Bernard G, Shevell MI. Channelopathies: a review. Pediatr Neurol. 2008 Feb;38(2):73-85.

Update Date: 4/22/2009

Updated by: A.D.A.M. Editorial Team: David Zieve, MD, MHA, Greg Juhn, MTPW, David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy & Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (4/28/2009).

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