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Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements.
HOW IS PARAMYOTONIA CONGENITA DIAGNOSED?
The myotonia may be found during electromyographic (EMG) examination. During this test fine needles are inserted into the muscle and the muscle’s electrical signals are recorded. The muscle is chilled for this test, as chilling brings on the myotonia. Evidence of myotonia supports the diagnosis of PMC. At times diagnosis is not as easily accomplished, and further testing is necessary.
HOW IS PARAMYOTONIA CONGENITA TREATED?
The treatment is based on symptoms and the aim of the treatment is to manage the condition with minimal disruption of routine life. Treatment with medications that block the sodium channels such as mexiletine may help reduce the stiffness related to myotonia. Potassium intake needs to be controlled as well as exposure to cold as these could trigger attack.
DID YOU KNOW?
It has been seen that certain kinds of foods, especially watermelons and carrots are known to induce the symptoms of PC while other cases are linked with genetics.