A new familial syndrome with dystonia and lower limb action myoclonus

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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.