Rippling muscle disease may be caused by “silent” action potentials in the tubular system of skeletal muscle fibers

Abstract

Rippling muscle disease (RMD) is a generally benign, myotonic-like myopathy associated with rapid rolling contractions and percussion-induced contractions. These contractions are electrically silent in electromyographic recordings, which is taken as evidence that action potentials are not involved in the phenomena. The pathophysiological mechanisms underlying the symptoms have not been elucidated. Many cases of RMD are caused by mutations in caveolin-3, and aberrations in the tubular system are commonly observed. Here, recent data are discussed showing that action potentials can travel over substantial distances entirely within the transverse and longitudinal tubular systems of a muscle fiber and that stretch can induce such action potentials. Action potentials travelling in the tubular system in most circumstances probably cannot excite the sarcolemma and hence would not be detected. It is suggested that the distinctive contractions in RMD may be due to stretch-induced generation of action potentials within the tubular system.