Genetic and therapeutic insights in musician’s dystonia: a single-centre case series and narrative review

Background: Musician’s dystonia is a task-specific focal dystonia that severely impacts professional performance and quality of life. Literature combining clinical data and therapeutic outcomes remains limited.
Objectives: To describe the clinical characteristics, genetic findings, and treatment outcomes in a cohort of musicians with dystonia, and to contextualise these data within current evidence.
Methods: This prospective, monocentric observational study included 20 patients diagnosed with musician’s dystonia at a tertiary movement disorder centre (October 2023 – October 2025). Data collected included demographics, instrument type, dystonia phenomenology, targeted genetic testing, and treatments received. Outcomes were assessed both clinically and subjectively.
Results: The cohort comprised 16 males and 4 females (mean age at onset: 38 years). Instruments included keyboards (40%), strings (35%), and wind instruments (25%). Two patients carried TOR1A variants. Botulinum toxin injections were performed in 15 cases, with partial improvement in 80%. Sensorimotor retraining was used in 10 patients. Career impact was substantial, with 30% reporting career termination.
Conclusions: Musician’s dystonia is heterogeneous and often career-threatening. Our findings highlight the importance of early diagnosis, genetic screening in selected cases, and multimodal management combining botulinum toxin and rehabilitative approaches.