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.
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.
Authors: Niccolo E Mencacci; Léa R'bibo; Sara Bandres-Ciga; Miryam Carecchio; Giovanna Zorzi; Nardo Nardocci; Barbara Garavaglia; Amit Batla; Kailash P Bhatia; Alan M Pittman; John Hardy; Anne Weissbach; Christine Klein; Thomas Gasser; Ebba Lohmann; Nicholas W Wood Journal: Hum Mol Genet Date: 2015-07-08 Impact factor: 6.150