This study was supported by an AMC Graduate School Scholarship (to J.L.G.) and the Princess Beatrix Fund (to M.A.T.).
A new familial syndrome with dystonia and lower limb action myoclonus†
Article first published online: 2 MAR 2011
Copyright © 2011 Movement Disorder Society
Volume 26, Issue 5, pages 896–900, April 2011
How to Cite
Groen, J., van Rootselaar, A.-F., van der Salm, S. M. A., Bloem, B. R. and Tijssen, M. (2011), A new familial syndrome with dystonia and lower limb action myoclonus. Mov. Disord., 26: 896–900. doi: 10.1002/mds.23557
Relevant conflict of interest: Nothing to report.
- Issue published online: 21 APR 2011
- Article first published online: 2 MAR 2011
- Manuscript Accepted: 4 NOV 2010
- Manuscript Revised: 27 SEP 2010
- Manuscript Received: 11 MAY 2010
- myoclonus dystonia;
- orthostatic myoclonus;
Myoclonus-dystonia (M-D) is genetic and clinically heterogeneous. Identification and description of rare M-D syndromes may contribute to gene identification.
Here, we describe a new, autosomal dominant M-D syndrome in a 3-generation pedigree showing anticipation. Patients have progressive action-induced multifocal dystonia and generalized myoclonus. A remarkable feature of the syndrome is action myoclonus in the lower extremities triggered by upright posture, causing instability. Electrophysiological characterization shows a 12-Hz peak in the EMG autospectrum and corticomuscular and intermuscular coherences.
A new familial M-D syndrome with progressive action myoclonus and dystonia is described. © 2011 Movement Disorder Society