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    Myotonia congenita

    Thomsen's disease; Becker's disease

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

    Causes

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

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

    Symptoms

    The hallmark of this condition is myotonia -- the muscles are unable 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 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 look muscular and well-developed. They may not have symptoms of myotonia congenita until age 2 or 3.

    Exams and Tests

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

    Tests include:

    • Electromyography (EMG, a test of the electrical activity of the muscles)
    • Genetic testing
    • Muscle biopsy

    Treatment

    Mexiletine is a medication that treats symptoms of myotonia congenita. Other treatments include:

    • Phenytoin
    • Procainamide
    • Quinine
    • Tocainide

    Outlook (Prognosis)

    People with this condition can do well. 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

    • Aspiration pneumonia caused by swallowing difficulties
    • Frequent choking, gagging, ortrouble swallowing in an infant
    • Long-term (chronic) joint problems
    • Weakness of the abdominal muscles

    When to Contact a Medical Professional

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

    Prevention

    Couples who want to have children and who have a family history of myotonia congenita should consider genetic counseling.

    References

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

    Chinnery PF. Muscle diseases. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 429.

    Kerchner GA, Lenz RA, Ptacek LJ. Channelopathies: Episodic and electrical disorders of the nervous system. In: Bradley WG, Daroff RB, Fenichel GM, Jankovic J, eds. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa: Butterworth-Heinemann: 2008:chap 68.

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      Review Date: 2/5/2012

      Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Luc Jasmin, MD, PhD, Department of Neurosurgery at Cedars-Sinai Medical Center, Los Angeles, and Department of Anatomy at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

      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. 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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