Myotonia congenita (patient information)
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What is Myotonia congenita?
Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.
What are the symptoms of Myotonia congenita?
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.
What causes Myotonia congenita?
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.
Who is at risk for Myotonia congenita?
How do I know I have Myotonia congenita?
When to seek urgent medical care
Treatment options
Where to find medical care for Myotonia congenita
Directions to Hospitals Treating Myotonia congenita