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Superficial anterior muscles
Superficial anterior muscles


Definition:

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



Alternative Names:

Thomsen's disease; Becker's disease



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.



Symptoms:

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:

  • Difficulty in swallowing
  • Gagging
  • Stiff movements that improve when they are repeated
  • Shortness of breath or tightening of the chest at the beginning of exercise

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.



Signs and tests:

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

Tests include:



Treatment:

Treatment for symptoms includes:

  • Mexiletine
  • Phenytoin
  • Procainamide


Support Groups:



Expectations (prognosis):

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.



Complications:
  • Aspiration pneumonia caused by swallowing difficulties
  • Frequent choking, gagging, or difficulty swallowing in an infant
  • Abdominal muscle weakness
  • Chronic joint problems


Calling your health care provider:

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



Prevention:

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



References:

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.




Review Date: 4/22/2009
Reviewed 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).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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