Skeletal muscle channelopathies are rare heterogeneous conditions that require comprehensive management and genetic testing for definitive diagnosis.
This review highlights the importance of genetic testing and comprehensive management for skeletal muscle channelopathies.
PURPOSE OF REVIEW: This article describes the clinical features, diagnosis, pathophysiology, and management of nondystrophic myotonia and periodic paralysis. RECENT FINDINGS: 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. SUMMARY: 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.
Jaya Trivedi (Thu,) conducted a review in Muscle channelopathies (nondystrophic myotonia and periodic paralysis). Skeletal muscle channelopathies are rare heterogeneous conditions that require comprehensive management and genetic testing for definitive diagnosis.