Abstract
The recent discoveries that mutations in the genes for the skeletal muscle sodium and chloride channels are responsible, respectively, for paramyotonia/hyperkalemic periodic paralysis and for myotonia congenita of Thomsen have made the classification, diagnosis, and treatment of these disorders much easier. The discovery that myotonic dystrophy results from an unstable [CTG]n trinucleotide expansion has permitted the accurate diagnosis of both symptomatic and asymptomatic individuals, and has led to major advances in preventive treatment, including prenatal and genetic counseling. Diseases that resemble the inherited myotonic disorders are now easier to identify, and as a result of genetic testing a new clinical disorder that is similar to but distinct from myotonic dystrophy has emerged. This new disorder, proximal myotonic myopathy, does not appear to be linked to the genes for the sodium or chloride channels, and has cataracts, myotonia, weakness, and no abnormal expansion of the [CTG]n repeat in the gene for myotonic dystrophy. This review discusses the diagnosis and treatment of these myotonic disorders.
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