Myotonia congenita
Alternate Names : Thomsen's disease, Becker's disease
Symptoms & Signs
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.
Diagnosis & Tests
The doctor may ask if there is a family history of myotonia congenita. Tests include:
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