Myotonia congenita
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 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 electrical signals 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:
Children with myotonia congenita often look muscular and well-developed. They 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
Mexiletine is a medication that treats symptoms of myotonia congenita. Other treatments include:
-
Phenytoin
-
Procainamide
-
Quinine
-
Tocainide
Expectations (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.
Complications
- Aspiration pneumonia
caused by swallowing difficulties
- Frequent choking, gagging, or trouble swallowing in an infant
- Long-term (chronic) joint problems
- Weakness of the abdominal muscles
Calling your health care provider
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.
Updated: 2/5/2012
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.