title: Treatment of myoclonus-dystonia syndrome with tetrabenazine.
abstract: BACKGROUND
  Many cases of myoclonus-dystonia (M-D) are due to mutations in SGCE (DYT11). For the majority of patients, myoclonus is relatively more severe than dystonia and can lead to significant functional disability. Deep brain stimulation has been chosen as a treatment option in some patients given that M-D often responds poorly to oral pharmacotherapy.
  
  
  METHODS
  Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine.
  
  
  RESULTS
  Both subjects showed marked improvement in myoclonus and mild-to-moderate improvement in dystonia with tetrabenazine. In addition, the response to tetrabenazine has been sustained for years.
  
  
  CONCLUSIONS
  A therapeutic trial of tetrabenazine should be considered in patients with M-D, especially before consideration of deep brain stimulation. An adequately powered multi-center, double-blind study of tetrabenazine will be required to determine the relative contributions of tetrabenazine therapy to myoclonus, dystonia, quality of life, and activities of daily living in patients with M-D.
authors.affiliation: Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA.
authors.forename: Angelo Y
authors.initials: AY
authors.lastname: Luciano
authors.affiliation: Departments of Neurology, Human Genetics, and Pediatrics, School of Medicine, Emory University Atlanta, GA, USA.
authors.forename: H A
authors.initials: HA
authors.lastname: Jinnah
authors.affiliation: Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA.
authors.forename: Ronald F
authors.initials: RF
authors.lastname: Pfeiffer
authors.affiliation: Parkinson's & Movement Disorder Institute, Fountain Valley, CA, USA.
authors.forename: Daniel D
authors.initials: DD
authors.lastname: Truong
authors.affiliation: Struthers Parkinson's Center, Golden Valley, MN, USA.
authors.forename: Martha A
authors.initials: MA
authors.lastname: Nance
authors.affiliation: Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA. Electronic address: mledoux@uthsc.edu.
authors.forename: Mark S
authors.initials: MS
authors.lastname: LeDoux
mesh_terms: D018759:Adrenergic Uptake Inhibitors / Q000627:therapeutic use*; D000328:Adult; D004311:Double-Blind Method; D020821:Dystonic Disorders / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics; D012720:Severity of Illness Index; D013747:Tetrabenazine / Q000627:therapeutic use*
chemical_list: D018759:Adrenergic Uptake Inhibitors; D018832:Molecular Chaperones; C108175:TOR1A protein, human; D013747:Tetrabenazine
keywords: Blinded; Dopamine; Dystonia; Myoclonus; Tetrabenazine