Hereditary and Autoimmune Myasthenias

© 2014 Elsevier Inc. All rights reserved.Impaired signal transmission at the neuromuscular junction results in fatigable muscle weakness that may derive from genetic mutations or be acquired due to an autoimmune response. The number of proteins associated with genetic forms of myasthenia is steadily increasing, and includes proteins directly involved in signal transfer or involved in the organization and structure of this synapse. An understanding of the molecular mechanisms allows alternative treatment strategies to be applied appropriately. The acquired myasthenias make up the majority of cases with autoantibodies directed against the acetylcholine receptor, but here too the number of identified targets for autoimmune attack is growing, with known pathogenic antibodies directed against the presynaptic voltage-gated calcium channels and the postsynaptic protein, MuSK. Treatment strategies again vary according to the antigenic target.