DYT6 Dystonia Mimicking Adolescent Idiopathic Scoliosis Successfully Treated by Pallidal Stimulation

Abstract

Purpose: Dystonia type 6 (DYT6) is an autosomal dominant monogenic movement disorder that often involves craniocervical and laryngeal regions, but can in rare circumstance present as trunk dystonia or severe scoliosis. Deep brain stimulation of the globus pallidus internus (GPi-DBS) has yielded favorable results in the treatment of DYT6 patients. This report describes the case of a 14-year-old male adolescent with DYT6 dystonia and severe scoliosis who was successfully treated by GPi DBS. Patients and Methods: The diagnosis of DYT6 dystonia was made after excluding other etiologies and was confirmed by next-generation sequencing. The patient underwent bilateral GPi-DBS implantation surgery under general anesthesia. Results: The patient's Burke-Fahn-Marsden Dystonia Rating Scale score was 24 before surgery and decreased to 13.5 at 3 months, 3 at 6 months, and 2 at 12 months after bilateral GPi-DBS, corresponding to a 91% improvement from baseline to 12 months post-surgery. The patient's scoliosis improved significantly within 6 months after DBS. No complications occurred during surgery. Conclusion:An adolescent DYT6 patient with dystonia-related severe scoliosis was treated by bilateral GPi-DBS. The patient had an excellent outcome at 12 months after surgery, which prevented him from developing severe spinal deformity and disability. Early diagnosis of dystonia in adolescent patients can lead to timely and effective treatment. The etiology of severe scoliosis in adolescents should be carefully evaluated and differential diagnosis including dystonia should be considered. GPi-DBS in patients with DYT6 dystonia can prevent deformity.

Case report: Approaches to treatment-refractory and super-refractory glutamic acid decarboxylase antibody-spectrum disorders

“…GPi DBS for medically refractory dystonia has been approved by the Food and Drug Administration in the United States since 2003, and two multicenter studies demonstrated clinical benefit in generalized dystonia since 2006 ( 15 , 16 ). Example images of GPi DBS placement for dystonia may be found here ( 17 ). For a review of its indications and uses, see ( 17 – 20 ).…”

“…Example images of GPi DBS placement for dystonia may be found here (17). For a review of its indications and uses, see (17)(18)(19)(20). A 2021 systematic review of medically refractory dystonia of 35 studies (n = 319) found that GPi DBS placement was consistently safe and effective and noted that primary dystonias achieved better motor symptom and disability score improvement than secondary dystonias (21).…”