Treatment of myoclonus-dystonia syndrome with tetrabenazine

Angelo Y. Luciano, H. A. Jinnah, Ronald F. Pfeiffer, Daniel D. Truong, Martha A. Nance, Mark Ledoux

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1423-1426
Number of pages4
JournalParkinsonism and Related Disorders
Volume20
Issue number12
DOIs
StatePublished - Dec 1 2014

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Tetrabenazine
Myoclonus
Dystonia
Deep Brain Stimulation
Therapeutics
Sequence Deletion
Activities of Daily Living
Double-Blind Method
Myoclonic dystonia
Siblings
Quality of Life
Drug Therapy
Mutation

All Science Journal Classification (ASJC) codes

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Luciano, A. Y., Jinnah, H. A., Pfeiffer, R. F., Truong, D. D., Nance, M. A., & Ledoux, M. (2014). Treatment of myoclonus-dystonia syndrome with tetrabenazine. Parkinsonism and Related Disorders, 20(12), 1423-1426. https://doi.org/10.1016/j.parkreldis.2014.09.029

Treatment of myoclonus-dystonia syndrome with tetrabenazine. / Luciano, Angelo Y.; Jinnah, H. A.; Pfeiffer, Ronald F.; Truong, Daniel D.; Nance, Martha A.; Ledoux, Mark.

In: Parkinsonism and Related Disorders, Vol. 20, No. 12, 01.12.2014, p. 1423-1426.

Research output: Contribution to journalArticle

Luciano, AY, Jinnah, HA, Pfeiffer, RF, Truong, DD, Nance, MA & Ledoux, M 2014, 'Treatment of myoclonus-dystonia syndrome with tetrabenazine', Parkinsonism and Related Disorders, vol. 20, no. 12, pp. 1423-1426. https://doi.org/10.1016/j.parkreldis.2014.09.029
Luciano, Angelo Y. ; Jinnah, H. A. ; Pfeiffer, Ronald F. ; Truong, Daniel D. ; Nance, Martha A. ; Ledoux, Mark. / Treatment of myoclonus-dystonia syndrome with tetrabenazine. In: Parkinsonism and Related Disorders. 2014 ; Vol. 20, No. 12. pp. 1423-1426.
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