Myotonia Congenita
Alternate Names : Thomsen's Disease
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Myotonia Congenita Symptoms & Signs
The hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after voluntary contraction. For example, after a handshake, the affected individual is only very slowly able to open and disengage his hand.
Early symptoms may include gagging and difficulty in swallowing, because oropharyngeal muscles are slow to relax. Initial movements may be stiff but improve with immediate repetition.
Children with myotonia congenita often appear to be muscular and well developed. There may not be symptoms of myotonia congenita until the child is 2 or 3 years old.
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