Gait Impairment in Myoclonus–Dystonia (DYT-SGCE). (2nd August 2019)

• Record Type: Journal Article
• Authors: Haeri, Ghazal; Shahidi, Gholamali; Fasano, Alfonso; Rohani, Mohammad
• Is Part Of: Tremor and other hyperkinetic movements. Volume 9(2019)
• Publication Date: 2019-08-02
• Subjects: Gait -- Epsilon-sarcoglycan -- myoclonus–dystonia -- myoclonus -- DYT11; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/tohm.v0.656
• Languages: English
• ISSNs: 2160-8288

Abstract

Background: Myoclonus–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 report: A 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. Discussion: Although it is not typical, leg involvement could be a manifestation of myoclonus–dystonia either at presentation or during disease progression.