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Autoimmune disorders of the neuromuscular junction Vincent ANeurol India 2008[Jul]; 56 (3): 305-13The neuromuscular junction (NMJ) is a specialized synapse with a complex structural and functional organization. It is a target for a variety of immunological disorders and these diseases usually respond well to immunotherapies. The understanding of the immunological basis of myasthenia gravis, the most common neuromuscular junction disorder, has improved in the recent years. Most patients have antibodies to the acetylcholine receptor (AChR), but around 10% have AChR antibodies that are only identified by novel methods, and up to 5% have muscle-specific kinase antibodies which define a different subgroup of myasthenia. The spectrum of antibodies and their pathophysiological aspects are being elucidated. Even though less common, Lambert Eaton myasthenic syndrome (LEMS) is important to recognize. The abnormality in LEMS is a presynaptic failure to release enough packets of ACh, caused by antibodies to the presynaptic voltage-gated calcium channels. More than half these patients have a small cell carcinoma of lung. Acquired neuromyotonia (NMT) is a condition associated with muscle hyperactivity. Clinical features include muscle stiffness, cramps, myokymia, pseudomyotonia and weakness. The immune mechanisms of acquired NMT relate to loss of voltage-gated potassium channel function. This review will focus on the important recent developments in the immune-mediated disorders of the NMJ.|Animals[MESH]|Antibodies/metabolism[MESH]|Autoimmune Diseases/classification/metabolism/*pathology[MESH]|Central Nervous System Diseases/immunology[MESH]|Humans[MESH]|Myasthenia Gravis/immunology/physiopathology[MESH]|Neuromuscular Junction/*physiopathology[MESH]|Potassium Channels, Voltage-Gated/immunology[MESH]|Receptors, Cholinergic/immunology[MESH] |
