Parr_2007_Dev.Med.Child.Neurol_49_629

In recent years, understanding of the pathogenesis and clinical presentation of distinct myasthenia subtypes has increased significantly. This article reviews the clinical manifestations of autoimmune myasthenia gravis (including myasthenia associated with anti-muscle-specific kinase antibodies), ocular myasthenia, and antibody negative myasthenia. The following treatments are examined: cholinesterase inhibitors, immunosuppressants, and thymectomy. Inherited congenital myasthenic syndromes (CMS) are now increasingly recognized, and most commonly present during childhood. This article outlines the presynaptic, synaptic basal lamina-associated, and postsynaptic classification of CMS and the clinical presentation and aetiology of individual syndromes. Relevant investigations and treatment options (including the role of pyridostigmine, 3,4-diaminopyridine, fluoxetine, and ephedrine) are discussed.