Abstract
Background: Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus. Methods: Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed. Results: Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified. Conclusion: These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.
| Original language | English |
|---|---|
| Journal | Parkinsonism and Related Disorders |
| Volume | 20 |
| Issue number | 3 |
| Pages (from-to) | 328-331 |
| Number of pages | 4 |
| ISSN | 1353-8020 |
| DOIs | |
| Publication status | Published - 01.01.2014 |
Funding
Christos Ganos Commercial research support: Grants by Actelion , Ipsen , Pharm Allergan and Merz Pharmaceuticals . Academic research support: Deutsche Forschungsgemeinschaft ( MU1692/2-1 and GA2031/1-1 ). European Science Foundation . Saskia Biskup No disclosures to report Stefanie Krüger No disclosures to report Aracelli Meyer-Osores No disclosures to report Sibylle Hodecker No disclosures to report Christian Hagel No disclosures to report Ludger Schöls No commercial research support. Academic research support not attributed in the manuscript: Deutsche Forschungsgemeinschaft ( SCHO754/5-1 ), grants of the German Research Council (BMBF) to Leukonet ( 01GM0644 ) and mitoNET ( 01GM0864 ), an E-RARE grant to EUROSCAR ( 01GM1206 ) and an FP7 grant to NeurOmics ( 2012-305121 ). He further received funding from the HSP-Selbsthilfegruppe Deutschland eV . Kailash P. Bhatia Funding for travel from GlaxoSmithKline , Orion Corporation , Ipsen, and Merz Pharmaceuticals, LLC; serves on the editorial boards of Movement Disorders and TherapeuticAdvances in Neurological Disorders; receives royalties from the publication of Oxford Specialist Handbook of Parkinson's Disease and Other Movement Disorders (Oxford University Press, 2008); received speaker honoraria from GlaxoSmithKline, Ipsen, Merz Pharmaceuticals, LLC, and Sun Pharmaceutical Industries Ltd.; personal compensation for scientific advisory board for GSK and Boehringer Ingelheim; received research support from Ipsen and from the Halley Stewart Trust through Dystonia Society UK, and the Wellcome Trust MRC strategic neurodegenerative disease initiative award (Ref. number WT089698), a grant from the Dystonia Coalition and a grant from Parkinson's UK (Ref. number G-1009 ). Alexander Münchau Commercial research support. Grants by Pharm Allergan, Ipsen, Merz Pharmaceuticals. Honoraria for lectures from Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, GlaxoSmithKline and Desitin Support from non-profit foundations or societies Possehl-Stiftung, Lübeck Dystonia Coalition (USA) Tourette Syndrome Association (Germany) European Huntington Disease Network N.E.MO. Charity supporting the research of paediatric movement disorders Academic research support not attributed in the manuscript Deutsche Forschungsgemeinschaft (MU 1692/3-1; SFB 936) Else Kröner-Fresenius-Stiftung. A. Münchau is employed at the University of Lübeck Appendix A
