Abstract
Background: Non-dystrophic myotonias are rare disorders involving chloride (CLCN1) or sodium (SCN4A) channels. Affected individuals often present with similar complaints of muscle stiffness and weakness. Specific clinical signs in combination with electrophysiologic testing may help distinguish between a chloride and a sodium channel mutation. Objectives: To establish genotype/phenotype correlations in a large cohort of French-Canadian patients with non-dystrophic myotonias. Methods: We evaluated 38 subjects (from 25 families) with non-dystrophic myotonia, which is amongst the largest cohorts described so far.
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