Myotonia congenita

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Superficial anterior muscles

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Myotonia congenita

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.

• There is often a family history of myotonia congenita.
• An EMG demonstrates myotonic potentials.
• A muscle biopsy may show an absence of type 2B fibers.

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