Relevant disclosures and conflicts of interest are listed at the end of this article.
Prominent Lower-Limb Involvement in a Family with Myoclonus-Dystonia
Version of Record online: 26 MAY 2014
© 2014 International Parkinson and Movement Disorder Society
Movement Disorders Clinical Practice
Volume 1, Issue 2, pages 115–117, June 2014
How to Cite
Kobylecki, C., Damodaran, D., Kerr, B., Newton, R. W. and Silverdale, M. A. (2014), Prominent Lower-Limb Involvement in a Family with Myoclonus-Dystonia. Movmnt Disords Clncl Practice, 1: 115–117. doi: 10.1002/mdc3.12022
- Issue online: 5 JUN 2014
- Version of Record online: 26 MAY 2014
- Manuscript Accepted: 21 MAR 2014
- Manuscript Revised: 19 FEB 2014
- Manuscript Received: 2 JAN 2014
- Multiple System Atrophy Trust
- gait disorder
We report on a large family with myoclonus-dystonia resulting from an epsilon-sarcoglycan mutation, with prominent early and late lower-limb involvement. The proband's condition has evolved to include marked lower-limb dystonia and dystonic gait impairment in the fourth decade. Other family members had evidence of prominent lower-limb involvement at presentation or a more typical phenotype of axial and upper-limb myoclonus and dystonia. Prominent lower-limb involvement developing late in the disease course is an atypical feature and exemplifies the wide phenotypic heterogeneity observed in people with myoclonus-dystonia.