Definition:
Paramyotonia congenita is categorized as an autosomal dominant disorder affecting the muscle. This medical condition is characterized by paradoxical myotonia, which is a defined as myotonia , which usually appears during exercise as well as during sever exposure to the cold. During episodes, the patient may suffer from difficulty in making voluntary movements and breathing.
Diagnosis:
Electromyogram (EMG) is frequently conducted to diagnose OMC. However, further imaging tests is necessary to provide supplementary diagnosis.
Treatment:
The medications that will be prescribed would generally depend on the certain type of PMC. Carbonic anhydrase inhibitors are given but should be strictly monitored since it has been known to be potentially dangerous when combined with other medications.
Symptoms and Signs:
Symptoms of Paramyotonia congenital are typically evident at birth which includes muscle stiffness and general weakness, affecting the neck, face as well as the upper extremities. These episodes often last for a few minutes to several hours. Temporary paralysis may also occur.
Causes:
PMC is primarily caused by the abnormality of the sodium channel in the muscle membrane. This disorder makes the patient extremely sensitive to cold, due to the exchanges of the potassium and sodium ions that typically occur during physical exertion.
