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A new familial syndrome with dystonia and lower limb action myoclonus

✍ Scribed by Justus Groen; Anne-Fleur van Rootselaar; Sandra M. A. van der Salm; Bastiaan R. Bloem; Marina Tijssen

Book ID
102946642
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
661 KB
Volume
26
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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. © 2011 Movement Disorder Society

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