We reported a 32-year-old man who was a sporadic case of myotonic syndrome with muscle stiffness or transient weakness of limbs upon initiating movements after rest. On examination, he showed painless myotonia with warm-up phenomenon, Hercules-like hypertrophic musculature and myotonic discharges in EMG. The clinical findings resembled to those of Becker disease rather than Thomsen disease. But electrodiagnosis suggested sodium channel myotonia instead of chloride channelopathy. Genetic testing detected a novel missense mutation (p.V1166A) in the SCN4A gene but not in the CLCN1 gene. Transient weakness upon initiating movements is usually observed in Becker disease but rare in Thomsen disease, which is not reported in sodium channel myotonia so far. He was probably the first case of sodium channel myotonia with transient weakness upon initiating movements, which was confirmed by 10 Hz repetitive nerve stimulation test as depolarization block.
Keywords: Becker disease; SCN4A; myotonia; sodium channel myotonia; transient weakness.