遺伝性ジストニア

Meige's syndrome is a refractory disorder characterized mainly by dystonia of the eyelids, typically presenting as blepharospasm and difficulty in opening the eyes, and may be accompanied by involuntary facial muscle spasms, with a prolonged and recurrent course. Professor YIN Kejing believes that the main pathogenesis of Meige's syndrome is internal stirring of liver wind. Treatment should address both the root cause and manifestations, with calming the liver and extinguishing wind as the general therapeutic principle. Professor YIN innovatively proposes the concept of alternative communication of the meridians, and adopts characteristic techniques including four-penetrating Yangbai(GB14), the double-needle connection technique, and the White Tiger Shaking Its Head manipulation to unblock the meridians, relieve spasm, and regulate qi and blood. The therapeutic efficacy is definite, providing a new approach for the clinical treatment of this disorder.

Obsessive-compulsive disorder (OCD) is being missed in children with severe intellectual disability. Their compulsive behaviours are routinely attributed to autism spectrum disorder or dismissed as challenging behaviour, without systematic consideration of OCD. I argue that this misattribution is predictable, consequential and correctable. The key diagnostic tool is the ego-dystonic/ego-syntonic distinction: OCD rituals are distressing to the child and a change from their baseline, whereas autistic repetitive behaviours are typically comforting. When this distinction is applied, and OCD is treated with modified exposure and response prevention and selective serotonin reuptake inhibitors, outcomes can be transformative. A dedicated evidence base for this population is urgently needed.

INTRODUCTION: Globus pallidus internus (GPi) deep brain stimulation (DBS) is an established treatment for dystonia; however, clinical outcomes for the technique remain variable despite technically accurate implantation. This study examined whether direct imaging guided lateral trajectory targeting can reproducibly position the stimulation field nearer a therapeutic zone in GPi DBS to yield durable clinical benefit in the long-term. METHODS: We retrospectively analyzed patients with idiopathic isolated or hereditary isolated dystonia treated with bilateral GPi DBS at a single center. Clinical outcomes were assessed longitudinally using the Burke Fahn Marsden Dystonia Rating Scale (BFMDRS). Targeting relied on fused stereotactic computed tomography with T2-weighted and susceptibility weighted magnetic resonance imaging. Final field modeling was anchored to the most recent clinically stable follow-up to represent the chronic therapeutic state. Native space morphometry, postoperative lead reconstruction, volume of tissue activation modeling, voxel wise sweetspot mapping, boundary focused overlap analyses, and normative connectomic analyses were performed to verify the results. RESULTS: Mean preoperative BFMDRS scores improved from 30.76 ± 31.16 to 10.56 ± 13.23 (Wilcoxon signed rank p < 0.001), corresponding to a mean patient level improvement of 67.0% ± 19.8% after a mean follow-up of 10.04 ± 6.01 years, with individual follow-up extending to 19 years. Direct imaging guided targeting produced a reproducible 48° to 49° lateral trajectory within the posteroventral (PV) GPi. Broadly overlapping sweetspot clusters localized near the dorsolateral GPi-GPe (Globus pallidus externus) border. Greater GPi-GPe border overlap volume showed a positive association with greater clinical improvement (Spearman ρ = 0.43, p = 0.025), and normative fiber filtering identified ansa lenticularis, pallidothalamic sensorimotor pathway, associated with clinical benefit (Spearman ρ = 0.86; p = 2 × 10⁻⁴), with the strongest named tract match to the dominant pallidothalamic system. CONCLUSION: Direct imaging guided lateral trajectory targeting was associated with durable clinical benefit and a reproducible stimulation pattern near the GPi-GPe interface. Sweetspot mapping and normative fiber analysis support this approach as a practical refinement of posteroventral GPi targeting rather than a change in target nucleus.

Task-specific tremor is a clinically heterogeneous phenotype that remains difficult to accommodate within current tremor classification. Although defined by its occurrence during a specific motor task, the boundaries with position-specific and isometric tremors remain uncertain. Additional classificatory complexity arises when a task-specific tremor phenotype is accompanied by neurological signs that remain subtle, questionable, or uncertain, such as possible dystonic posturing, rest tremor, mild bradykinesia, or response to alleviating maneuvers, and do not clearly support classification as a combined tremor syndrome, but raise the question of whether additional descriptive categories are needed. However, as in other movement disorders, caution is warranted against using additive labels to formalize uncertainty (the "plus" suffix) without biological, prognostic, or therapeutic validation. Available data suggest that the same task-specific tremor phenotype may reflect different underlying pathophysiological processes, with variable overlap with essential tremor, dystonia, and Parkinson's disease. This article addresses three unresolved issues in task-specific tremor: the interpretation of subtle neurological signs without prematurely introducing a "task-specific tremor-plus" category; the blurred boundary between task-specific, position-specific, and isometric tremors; and the relationship between heterogeneous clinical phenotypes and the available pathophysiological evidence. Rather than introducing new descriptive labels, we propose that these phenotypes should be approached through precise phenomenological description, quantitative characterization, and longitudinal follow-up, with the aim of determining whether they represent stable clinical variants, evolving combined tremor syndromes, or different expressions within a broader tremor spectrum.

OBJECTIVE: This study aimed to characterise laryngeal dystonia (LD) phenotypes using combined classification criteria and to evaluate treatment outcomes with botulinum neurotoxin type A (BoNT-A). METHODS: The study retrospectively reviewed patient medical records from our clinic over 5 years to identify cases of LD. We classified LD subtypes (adductor, abductor, mixed) and dystonic vocal tremor (DVT) based on updated criteria. RESULTS: We analysed 75 cases, predominantly adductor LD (60%) and DVT (28%). In all, 84% of patients were females, diagnosed around 68 years of age. The DVT group had late-onset dysphonia that worsened over time and was associated with essential tremor in almost half of cases. Subjects with mixed LD had the greatest increase in Voice Handicap Index (VHI) over time and the longest duration of disease in all cases associated with DVT. Abductor LD cases had the most severe dysphonia (VHI: 73.3). Two-thirds of cases received BoNT-A therapy; most had adductor LD and had received treatment for longer times and had the lowest rate of treatment refusal. CONCLUSIONS: Correct LD classification aids in diagnosis, prognosis and treatment; it should be dynamic and evolve with the patient's history. However, there is a lack of data in the literature on certain aspects of LD, emphasising the need for further research to improve clinical practice.