Myotonia congenita
Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.
Causes of Myotonia congenita
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.
Myotonia congenita 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.
Tests and Exams
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 of Myotonia congenita
Mexiletine is a medication that treats symptoms of myotonia congenita. Other treatments include:
- Phenytoin
- Procainamide
- Quinine
- Tocainide
Prognosis (Outlook)
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.
Potential 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
When to Contact a Health Professional
Call your health care provider if your child has symptoms of myotonia congenita.
Prevention of Myotonia congenita
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.
Related Images
Superficial anterior muscles| 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. |
