Gait Impairment in Myoclonus–Dystonia (DYT-<i>SGCE</i>)

Abstract

BackgroundMyoclonus–dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common.Case reportA 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs.DiscussionAlthough it is not typical, leg involvement could be a manifestation of myoclonus–dystonia either at presentation or during disease progression.