Deep brain stimulation shows mixed outcomes in managing dystonia in rare metabolic disorder

Deep brain stimulation (DBS) is a feasible and well-tolerated treatment for dystonia in patients with glutaric aciduria type 1 (GA1), but it does not lead to significant improvements in motor function, according to a study.

Researchers analyzed the clinical records of 15 children (ages 3–17.5) and 1 adult (age 31) with GA1 who underwent DBS. The median age at surgery was 11.5 years. Pre-surgical motor function, assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), showed severe impairment, with scores ranging from 58.5 to 114.

Deep brain stimulation was well-tolerated without metabolic complications, but motor function improvements were not statistically significant at 1-year and final follow-ups. However, patient-reported outcomes, measured using the Canadian Occupation Performance Measure, indicated clinically meaningful improvements in daily function for most patients.

During follow-up, 4 children transitioned to adult care, and 3 patients died, though none of the deaths were linked to DBS. The findings suggest that while DBS may not significantly alter dystonia severity in GA1, it could still provide functional benefits for carefully selected patients.