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A new familial syndrome with dystonia and lower limb action myoclonus
Author(s) -
Groen Justus,
van Rootselaar AnneFleur,
van der Salm Sandra M. A.,
Bloem Bastiaan R.,
Tijssen Marina
Publication year - 2011
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23557
Subject(s) - myoclonus , dystonia , neurological disorder , movement disorders , neuroscience , psychology , physical medicine and rehabilitation , anticipation (artificial intelligence) , medicine , electromyography , central nervous system disease , disease , artificial intelligence , computer science
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