[A girl with hereditary myotonia due to an exceptional sodium channel mutation]

A 22-month-old girl had cramps and stiffness of her muscles. After medical history, physical examination and an EMG, a short differential diagnosis based on the symptoms of myotonia was made. Initially, the symptoms were incorrectly assumed to be due to Becker's myotonia, an autosomal recessive condition caused by a mutation in the chloride channel. Molecular analysis did not show a defect in the chloride channel, but instead a defect in the sodium channel of the muscle fibre. Since defects in the sodium channel are responsible for several myotonic diseases, further analysis was necessary. Based on knowledge of the structure and mechanism of the sodium channel and study of literature on cases involving the identical mutation, the diagnosis 'potassium-aggravated myotonia' (PAM) was made. Re-evaluation of the patient showed that her symptoms fitted the diagnosis 'myotonia permanens', the severest form of PAM. She was treated with mexiletine. In myotonia several features can give direction to the diagnosis, including sensitivity to temperature and exercise, and family history. However, it is often necessary to use molecular analysis to be able to diagnose the disease correctly, make a prognosis and predict the risk of recurrence as well as to formulate a treatment plan.