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- W4312079871 abstract "This article describes the clinical features, diagnosis, pathophysiology, and management of nondystrophic myotonia and periodic paralysis.An increasing awareness exists about the genotype-phenotype overlap in skeletal muscle channelopathies, and thus genetic testing is needed to make a definitive diagnosis. Electrodiagnostic testing in channelopathies is highly specialized with significant overlap in various mutation subtypes. Randomized clinical trials have now been conducted in these disorders with expanded treatment options for patients with muscle channelopathies.Skeletal muscle channelopathies are rare heterogeneous conditions characterized by lifelong symptoms that require a comprehensive management plan that includes pharmacologic and nonpharmacologic interventions. The significant variability in biophysical features of various mutations, coupled with the difficulties of performing clinical trials in rare diseases, makes it challenging to design and implement treatment trials for muscle channelopathies." @default.
- W4312079871 created "2023-01-04" @default.
- W4312079871 creator A5038421269 @default.
- W4312079871 date "2022-12-01" @default.
- W4312079871 modified "2023-09-30" @default.
- W4312079871 title "Muscle Channelopathies" @default.
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- W4312079871 doi "https://doi.org/10.1212/con.0000000000001183" @default.
- W4312079871 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36537980" @default.
- W4312079871 hasPublicationYear "2022" @default.
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