Objective This study aimed to characterize the phenotypic spectrum and therapeutic outcomes of patients of Indian and Asian origin with DYT-TOR1A.
Methods A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG; p.Glu303del variant) from a tertiary care center in India.
Results Twelve patients (11 males, 91.7%) with a median age at disease onset of 10.5 years (range, 8–17 years) and a disease duration of 5 years (range, 2 months–31 years) were included. All patients had an isolated and progressive dystonia phenotype. Eight patients (66.7%) had a disease onset in childhood, and limb involvement at disease onset was noted in 10 (83.3%) patients. Five patients (41.7%) underwent bilateral globus pallidus internus deep brain stimulation within a median duration of 4 years (range, 2.5–6.5 years) from onset, with significant improvement.
Conclusion This Indian patient cohort showed a strong male predominance and consistent early involvement of the upper limbs. A shorter disease course accompanied by greater severity highlights the need for early recognition and potential surgical intervention.
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Objective There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders.
Methods One hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations.
Results The mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12–79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the “knowledge” domain and overall PKQ-BMD scores. The “number of injections” was also positively correlated with KAP performance.
Conclusion This study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients’ and carers’ KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.
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Barriers to providing movement disorders care in India Heli Shah, Prashanth Lingappa Kukkle Current Opinion in Neurology.2025; 38(4): 361. CrossRef