Clinical aspects of myasthenia explained

Abstract

Myasthenia gravis and myasthenic syndromes are diseases of the neuromuscular junction. Autoantibodies and toxins to or mutations in one of the synaptic proteins arc the main causes of dysfunction. Myasthenic phenotypes can be classified according to the basic aetiological mechanisms or divided depending on the clinical phenotype.

Myasthenia gravis autoantibody phenotype neuromuscular junction mutation choline-acetyltransferase mutations limb-girdle myasthenia slow-channel syndrome anti-musk antibodies neuromuscular-junction kinase antibodies ocular myasthenia quantal release frequent cause gravis