Muscle Channelopathies and Rhabdomyolysis

Episodic disorders of skeletal muscles include skeletal muscle channelopathies and rhabdomyolysis. The genetic variants that underlie both disorders can also cause persistent and progressive muscle weakness. The availability and expanded use of genetic testing allow for the identification of new genes causing periodic paralysis and rhabdomyolysis. Diagnostic approaches are evolving due to easier access to and availability of genetic testing. Advances in diagnostic techniques have highlighted the lag in therapeutics for patients with these rare disorders.