The neuromuscular junction (NMJ) is a specialized structure connecting the motor nerve terminal to the muscle membrane. Dysfunction of the NMJ can occur due to genetic mutations, autoimmune or toxic causes. NMJ disorders are important to recognize because they can lead to severe or life-threatening weakness, and most of them are treatable. A summary of NMJ anatomy and the pathophysiology, clinical presentation, diagnostic evaluation, and treatment of the most common NMJ disorders is presented below.
- Lambert-Eaton myasthenic syndrome
- Myasthenia gravis
- Neuromuscular junction