title: Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, United Kingdom; Department of Neurology, University Medical Centre Hamburg-Eppendorf (UKE), Hamburg, Germany; Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: cganos@gmail.com.
authors.forename: Christos
authors.initials: C
authors.lastname: Ganos
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; German Center for Neurogenerative Diseases, Tübingen, Germany; CeGaT GmbH, Tübingen, Germany.
authors.forename: Saskia
authors.initials: S
authors.lastname: Biskup
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; German Center for Neurogenerative Diseases, Tübingen, Germany; CeGaT GmbH, Tübingen, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Krüger
authors.affiliation: Clinic for Degenerative Brain Diseases, Department of Pediatrics, University Medical, Center Hamburg-Eppendorf (UKE), 20246 Hamburg, Germany.
authors.forename: Aracelli
authors.initials: A
authors.lastname: Meyer-Osores
authors.affiliation: Department of Neurology, University Medical Centre Hamburg-Eppendorf (UKE), Hamburg, Germany.
authors.forename: Sibylle
authors.initials: S
authors.lastname: Hodecker
authors.affiliation: Institute of Neuropathology, University Medical Center Hamburg-Eppendorf (UKE), 20246 Hamburg, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Hagel
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; German Center for Neurogenerative Diseases, Tübingen, Germany.
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, United Kingdom.
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.affiliation: Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Münchau
mesh_terms: D000328:Adult; D001044:Aphonia / Q000150:complications / Q000175:diagnosis*; D004421:Dystonia / Q000150:complications / Q000175:diagnosis*; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000150:complications / Q000175:diagnosis*; D015835:Ocular Motility Disorders / Q000150:complications / Q000175:diagnosis*; D010375:Pedigree; D012438:Saccades / Q000502:physiology; D013577:Syndrome
keywords: Aphonia; Dystonia; Epilepsy; Myoclonus; Slow horizontal saccades