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Background <p>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.</p> Objectives <p>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.</p> Methods <p>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.</p> Results <p>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 <i>TOR1A</i> 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.</p> Conclusions <p>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.</p>

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

  • 期刊论文

  • 发表日期：

    2026年3月5日

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  • David Aktan,
  • Charlotte Mouraux,
  • Frédérique Depierreux

摘要

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.