Generalized and segmental dystonia are treated first with oral medications and physiotherapy; when dystonia remains disabling, bilateral deep brain stimulation of the globus pallidus internus (GPi) is the treatment of choice. Botulinum toxin can help a few problem muscles, but it cannot treat the whole body.
Pallidal DBS has the best evidence of any surgery for dystonia. In a sham-controlled trial in the New England Journal of Medicine, stimulation improved movement scores by 15.8 points versus 1.4 points with sham,[1] with benefit maintained at 5 years.[2] In primary generalized dystonia, improvement averaged 51% at one year,[3] and in DYT1 (TOR1A) dystonia 68%.[4]
Medications first
Several groups of oral medications reduce dystonic movements. They are often better tolerated by children than adults. A medication trial is also essential to exclude dopa-responsive dystonia, which responds completely to medication. Dosing and choice are made by the treating neurologist.
Deep brain stimulation for generalized dystonia
Electrodes are placed in the posteroventral GPi on both sides. In generalized dystonia the trunk, limbs and neck improve together. Improvement is gradual:
- jerky and mobile movements improve first, often within weeks
- fixed postures loosen over months
- most of the benefit is reached by 6–12 months and lasts for years[5][2]
Who responds best?
- Isolated dystonia with a normal MRI, including idiopathic and genetic forms[6]
- DYT1 (TOR1A): 68% motor improvement; less in DYT6 (THAP1, 37%)[4]
- Myoclonus-dystonia (SGCE): usually a very good response; in our case series more than 90% symptom improvement on clinical assessment
- Shorter disease duration and younger age at surgery[6]
Acquired generalized dystonia, such as dyskinetic cerebral palsy, improves less (about 24% in a prospective study), though even this can matter for comfort and care.[7] See genetic dystonia and primary vs secondary dystonia.
Segmental dystonia
Segmental dystonia (neck and face, neck and arm, neck and trunk) is treated the same way and was included in the NEJM trial.[1] When the face is mainly involved, see Meige syndrome treatment.
Frequently asked questions
Is DBS the best treatment for generalized dystonia?
For disabling generalized isolated dystonia not controlled by medication, pallidal DBS is the most effective treatment available, supported by randomized evidence.[1]
Can DBS help a child with DYT1 dystonia?
DBS is widely used for children with DYT1 dystonia, and earlier treatment is linked to better results.[4] Each child is evaluated individually.
Will I be able to stop my medications after DBS?
Many patients reduce their dystonia medications after DBS, gradually and under medical supervision.
Sources
- Kupsch A, Benecke R, Müller J, et al. Pallidal deep-brain stimulation in primary generalized or segmental dystonia. N Engl J Med. 2006;355(19):1978–1990. doi:10.1056/NEJMoa063618 Source
- Volkmann J, Wolters A, Kupsch A, et al. Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. Lancet Neurol. 2012;11(12):1029–1038. Source
- Vidailhet M, Vercueil L, Houeto JL, et al. Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia. N Engl J Med. 2005;352(5):459–467. Source
- Artusi CA, Dwivedi A, Romagnolo A, et al. Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2020;91(4):426–433. Source
- Vidailhet M, Vercueil L, Houeto JL, et al. Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study. Lancet Neurol. 2007;6(3):223–229. Source
- Andrews C, Aviles-Olmos I, Hariz M, Foltynie T. Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes. J Neurol Neurosurg Psychiatry. 2010;81(12):1383–1389. Source
- Vidailhet M, Yelnik J, Lagrange C, et al. Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study. Lancet Neurol. 2009;8(8):709–717. Source