Patient with neuromuscular junction disease in a general practitioner's office

Myasthenia gravis is the most important disease caused by a failure of signal transmission from the nerve fiber to the muscle. The most common target of the pathological antibody response is the acetylcholine receptor on the postsynaptic side of the neuromuscular disc. The prevalence of myasthenia gravis is 8-15/100 000, so it is not a rare disease. The article briefly describes the peculiarities of clinical manifestations, recommendations for effective diagnosis, its difficulties and treatment options for this disease. We want to point out the differences between myasthenic pathological fatigue and weakness, as opposed to non-specific fatigue, which is often described by patients. The practice of general practitioners can significantly increase and accelerate the detection of myasthenia gravis and reduce the risk of acute decompensation in treated myasthenics. In short, we present clinical units arising from a disorder of the presynaptic part of the neuromuscular disc. The work complements the comprehensive information on peripheral nerve disorders and myopathies, which were published in previous issues of the journal.

Keywords: myasthenia gravis, neuromuscular disc, acetylcholine receptor, acetylcholinesterase, pathological fatigue, Lambert­‑Eaton myasthenic syndrome, botulism.