the united kingdom, estimates are 1 in 200,000 of the population.(reference 29) the major signs that indicate a congenital syndrome are symptoms present at birth, such as weakness and a depressive response to repetitive nerve stimulation.(reference 29) since the disease is genetic in nature and is not immune-mediated, any serum test will show up negative since congenital myasthenia is not a result of antibodies attacking the vital proteins of the nmj.(reference 7) knowledge of this disease is very plastic as new genes that could be "effected" (affected? effective?) could be discovered as we gain more insight into the different types. botulism neurotoxin may act on the neuromuscular junction either post synaptically or presynaptically as there are several different forms of toxins that the nmj is sensitive to.(reference 14) common mechanisms of action include blockage of acetylcholine release at the synapse via inhibition of the snare protein, thus causing the nmj to become abnormal in function.(reference 12) diagnosis tests repetitive nerve stimulation electromyography (emg) nerve conduction studies exercise testing single-fiber emg treatment symptomatic treatment cholinesterase inhibitors at achr immunosuppressive treatment thymectomy medical therapy: corticosteroids, non-steroidal immunosuppression short-term treatment: plasmapheresis, ivig