A New Familial Syndrome with Dystonia and Lower Limb Action Myoclonus

作者：Groen Justus; van Rootselaar Anne Fleur; van der Salm Sandra M A; Bloem Bastiaan R; Tijssen Marina^*

来源：Movement Disorders, 2011, 26(5): 896-900.

DOI：10.1002/mds.23557

• myoclonus dystonia
• orthostatic myoclonus
• anticipation

Background: Myoclonus-dystonia (M-D) is genetic and clinically heterogeneous. Identification and description of rare M-D syndromes may contribute to gene identification.
Results: 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.
Conclusions: A new familial M-D syndrome with progressive action myoclonus and dystonia is described.

• 出版日期2011-4