Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.
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.
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:
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.
Signs and tests
The doctor may ask if there is a family history of myotonia congenita.
Electromyography(EMG, a test of the electrical activity of the muscles)
- Genetic testing
Mexiletine is a medication that treats symptoms of myotonia congenita. Other treatments include:
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.
Aspiration pneumoniacaused 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.
Couples who want to have children and who have a family history of myotonia congenita should consider genetic counseling.