Myoclonus-dystonia is treated first with medications and, for a focal dystonic component such as cervical dystonia, botulinum toxin; when jerks or dystonia remain disabling, bilateral deep brain stimulation of the globus pallidus internus (GPi) is the most effective treatment. DBS treats both parts of the condition at once: the sudden jerks usually respond quickly and very well, and the dystonia improves more gradually.
In the published literature, SGCE myoclonus-dystonia is among the genetic dystonias that respond well to pallidal DBS.[1] In our own case series, patients treated with DBS for cervical dystonia, Meige syndrome and myoclonus-dystonia have shown more than 90% improvement in their symptoms, based on clinical assessment and documented on video. Individual results vary.
Our myoclonus-dystonia patient before and after DBS
The patient gave written consent for the video to be published. Results vary from patient to patient.
Step 1: medications and injections
Some oral medications reduce the jerks or the dystonia, but side effects often limit the dose, and the benefit tends to be partial. Botulinum toxin can help a focal component such as cervical dystonia or writer’s cramp. Medication choice and dosing belong to your neurologist. Alcohol briefly reduces the jerks in many patients, but it is not a treatment and carries a real risk of dependence.
Step 2: deep brain stimulation
When is DBS considered?
- Jerks interfere with eating, drinking, writing, working or social life
- Dystonia (often cervical) is disabling or painful
- Medications do not help enough or cause side effects
Which target?
The globus pallidus internus (GPi) is the usual target, because it improves both the jerks and the dystonia. The ventral intermediate thalamus (Vim) has been used in some patients whose jerks dominate. Prof. YILMAZ chooses the target for each patient.
What results can be expected?
- The jerks usually settle first, often within days to weeks of starting stimulation
- Dystonic postures loosen over months as settings are refined
- Daily tasks such as drinking from a cup, eating and writing become easier
In the meta-analysis of genetic dystonias, a younger age at onset of SGCE myoclonus-dystonia was associated with a smaller benefit,[1] which is one more reason to plan the evaluation carefully. In our own case series, patients treated with DBS for cervical dystonia, Meige syndrome and myoclonus-dystonia have shown more than 90% improvement in their symptoms, based on clinical assessment and documented on video. Individual results vary.
Psychological care
Anxiety, panic, obsessive-compulsive symptoms and low mood are more common in myoclonus-dystonia. Our 25-member team includes psychologists and psychiatrists who assess every patient before surgery and support them afterwards.
What to expect
- Remote evaluationSend a short video of the jerks and postures, your reports and any genetic test result.
- Evaluation in IstanbulMultidisciplinary assessment and 3 Tesla MRI under general anesthesia.
- SurgeryElectrodes on both sides and the stimulator are implanted under general anesthesia.
- ProgrammingStimulation is started after surgery and adjusted during your stay; follow-up continues remotely for compatible systems.
Read more about the condition on myoclonus-dystonia and about what makes DBS successful.
Frequently asked questions
Is DBS effective for myoclonus-dystonia?
Yes. Pallidal DBS usually improves both the jerks and the dystonia.[1] In our own case series, patients treated with DBS for cervical dystonia, Meige syndrome and myoclonus-dystonia have shown more than 90% improvement in their symptoms, based on clinical assessment and documented on video. Individual results vary.
How soon do the jerks improve after DBS?
Often within days to weeks after stimulation is started. Dystonia improves more gradually over months.
Do I need a genetic test before DBS?
It is helpful but not required. Many patients have an SGCE test result; if not, the diagnosis can be made clinically.
Sources
- 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