Objective: This study aims to evaluate the impact of deep brain stimulation (DBS) on monogenic dystonia.
Background: Monogenic dystonia is a heterogenic group of disorders with variability in clinical presentation and response to treatment. Surgical treatment for dystonia has dramatically expanded over the past several decades. With the evolution of genetic testing, prediction of clinical outcomes following the DBS can be made in certain types of monogenic dystonia.
Method: This is a retrospective study of patients with monogenic dystonia who underwent DBS after failing appropriate dystonia-specific medication. It details their genetic testing, clinical assessment pre- and post-DBS placement, neuroradiological features, and standardized dystonia scales.
Results: The study included a total of eleven patients (six females) with confirmed genetic dystonia who underwent DBS after failure of medical therapy. Genetic testing revealed the following genotypes: DYT1 (TOR1A) in six patients, DYT6 (THAP1) in four patients, and DYT11 (SGCE) in one patient. DBS targeting the globus pallidus internus (GPi) in 10/11 patients, and one patient received DBS targeting the subthalamic nucleus (STN). The mean duration between dystonia onset and DBS was five years. Improvement in dystonic symptoms after DBS placement was noted in all 11 patients, as noted by clinical improvement and dystonia-specific scale. However, two patients with DYT1 showed worsening of their dystonia early in the disease course due to the progression of lower limb bony deformities in one patient and lead migration secondary to significant weight loss in the second patient. The mean follow-up period was 7.5 years, with the most prolonged follow-up period being 22 years.
Conclusion: Monogenic dystonia is a progressive disease, though early DBS placement elevates the disease symptoms. DBS targeting either the GPi or STN has a positive impact. Early referral and evaluation for DBS placement should be to improve patient symptoms and quality of life.
To cite this abstract in AMA style:
A. Aldakheel, H. Alhodaif, Y. Alkhodair, H. Alfaris. Common Genotypes Of Dystonia and Response To DBS; Tertiary Center Experience [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/common-genotypes-of-dystonia-and-response-to-dbs-tertiary-center-experience/. Accessed June 15, 2025.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/common-genotypes-of-dystonia-and-response-to-dbs-tertiary-center-experience/