Neonatal hypotonia and neuromuscular weakness — structured clinical encounter

Station brief (candidate)

You are the neonatal registrar. A 3-month-old former term infant is referred with progressive floppiness, symmetric proximal weakness, tongue fasciculations and absent deep tendon reflexes. Between episodes the infant is alert and socially engaged. The creatine kinase is normal. The team asks you to make the bedside diagnosis, arrange the confirming test, and outline the disease-modifying therapy and its timing. You have 12 minutes with the team and 5 minutes for examiner discussion. ^[10]