TOR1A-related dystonia (DYT1 dystonia), is an autosomal dominant primary genetic dystonia caused by mutations in the TOR1A gene. It typically presents in childhood with limb-onset dystonia or cervical dystonia and often progresses to generalized dystonia. We report two cases of generalized dystonia with confirmed pathogenic variants of TOR1A (p.Glu303del). After thorough evaluation and parental counseling, both patients underwent deep brain stimulation (DBS) of bilateral globus pallidus internus and showed marked clinical improvement. These cases underscore the importance of early genetic diagnosis and the therapeutic efficacy of DBS in managing DYT1 dystonia.
BACKGROUND: Parkinson’s disease (PD) continues to impose a substantial global healthcare burden, and early diagnosis together with individualized treatment remains challenging due to heterogeneous clinical manifestations and limited accessibility of comprehensive diagnostic tools in routine clinical practice. Existing diagnostic approaches often rely on single-modality data or handcrafted features, resulting in inconsistent diagnostic performance, limited generalization capability, and inadequate support for personalized patient management. OBJECTIVE: This study aims to develop a lightweight hybrid multimodal framework for accurate Parkinson’s disease diagnosis and severity-aware personalized recommendations by integrating multimodal learning with an intelligent chatbot-based clinical decision support system. METHODS: The proposed framework incorporates three key components. First, LightFormerNet-HW efficiently extracts discriminative deep handwriting features using a lightweight transformer-based architecture. Second, multimodal gated severity diagnosis network performs multimodal feature fusion through cross-modal attention and severity-aware gating mechanisms to enhance diagnostic accuracy and disease severity estimation. Finally, PD-GuideX, a reinforcement learning-based chatbot, generates personalized therapeutic recommendations according to the predicted disease severity, thereby supporting individualized patient care. RESULTS: Experimental evaluation demonstrated excellent diagnostic performance, achieving an accuracy of 98.71% and a precision of 97.63%, outperforming existing state-of-the-art approaches. The proposed framework also provides computational efficiency and improved clinical interpretability while delivering severity-specific personalized recommendations. CONCLUSION: The proposed lightweight hybrid multimodal framework offers an accurate, computationally efficient, and clinically interpretable solution for early Parkinson’s disease diagnosis. By integrating multimodal diagnosis with a severity-aware intelligent chatbot, the framework facilitates accessible and personalized patient management, demonstrating strong potential for deployment in real-world clinical decision support systems.
INTRODUCTION: Chorea is a hyperkinetic, dance-like movement disorder with numerous genetic and acquired etiologies. Autoimmune chorea is a subset of acquired chorea in which antibody-mediated disruption of basal ganglia circuits is the underlying mechanism. It may occur in the context of autoimmune encephalitis (e.g., N-methyl-D-aspartate [NMDA] encephalitis), paraneoplastic movement disorders (e.g., anti-CV2/collapsin response mediator protein 5 [CRMP5] encephalitis), systemic autoimmune disorders (e.g., systemic lupus erythematosus [SLE]), antiphospholipid syndrome (APS), or post-streptococcal infection in children (Sydenham’s chorea). OBJECTIVE: This review aims to summarize the available literature and propose a clinical approach to chorea associated with various autoimmune disorders. METHODS: Following a structured selection process, 104 articles were included, most of which consisted of case series and case reports. RESULTS: Asymmetric or unilateral chorea may be the initial manifestation of an underlying autoimmune disorder. However, chorea often occurs in conjunction with other hyperkinetic movement disorders. The most common distribution patterns include limb chorea, orofacial chorea/dyskinesia, and generalized chorea. Early initiation of treatment is associated with favorable outcomes, except in paraneoplastic etiologies. CONCLUSION: Autoimmune chorea is a treatable, reversible antibody-associated movement disorder. Increased awareness, early recognition, comprehensive antibody testing, and age-appropriate malignancy screening are essential for optimal diagnosis and management.
