Disorders of Skeletal Muscle Membrane Excitability: Myotonia Congenita, Paramyotonia Congenita, Periodic Paralysis, and Related Syndromes

Disorders of skeletal muscle membrane excitability often result from a specific ion channel defect (channelopathies). Recent genetic linkage and mutational analyses have identified the molecular basis for several of the disorders of skeletal muscle membrane excitability. Identification of the ion channel defect has important implications for management and treatment of these disorders. In some of these disorders, the gene mutations encoding these ion channels have been identified. This chapter reviews the disorders of skeletal muscle membrane excitability resulting from ion channel dysfunction, as well as related disorders.