Cohort MD: Understanding musician's dystonia - a multimodal clinical, genetic and imaging study

Background to the study

As described here, we do not yet understand why some people develop musician's dystonia and others do not. Nevertheless, we have a wealth of evidence for certain risk factors and other pieces of the puzzle, such as initial results from small imaging studies that have found certain changes in the connectivity between brain areas in the brains of people with musician's dystonia and related disorders (including writer's cramp, an involuntary cramping of the hand that only occurs when writing). To put these pieces of the puzzle together, we are currently conducting a large study in which we are trying to collect data on symptoms and risk factors from as many people as possible and analyze them together with a genetic analysis and an MRI scan of the brain. This is the first study that attempts to take such a comprehensive and holistic approach and to include a large number of test subjects - an important criterion for the quality of scientific findings.

What happens during the study?

First, we take a comprehensive medical history from the participants, asking specific questions about symptoms and their progression over time, risk factors, and family history of neurological disease. We then take a blood sample for genetic analysis. Finally, we perform MRI imaging of the brain to map the connectivity and structure of brain areas. We take advantage of the fact that an MRI scan provides an accurate representation of the brain without exposing participants to radiation.

Who can take part?

For this study, we are looking for people with musician's dystonia and later also healthy musicians as a comparison group.

Who is responsible for the study?

The study is being conducted in cooperation between the IMMM, Hanover Medical School (MHH) and the Institute of Neurogenetics at the University Hospital of Lübeck; the contact persons are Prof. Dr. Lee, head of the IMMM, and Dr. med. Johanna Doll-Lee from the Department of Neurology at the MHH (doll-lee.johanna@mh-hannover.de).

This study is supported by the Clinician Scientist Program of the MHH.

Interested?

For further details and questions please contact us!

Literature

Doll-Lee, Johanna, André Lee, Shinichi Furuya, Bernhard Haslinger, and Eckart Altenmüller. 2023. “Musician’s Dystonia: Family History as a Predictor for Onset and Course of the Disease.” Movement Disorders. doi.org/10.1002/mds.29448.
Granert, Oliver, Martin Peller, Hans-Christian Jabusch, Eckart Altenmüller, and Hartwig Roman Siebner. 2011. “Sensorimotor Skills and Focal Dystonia Are Linked to Putaminal Grey-Matter Volume in Pianists.” Journal of Neurology, Neurosurgery, and Psychiatry 82 (11): 1225–31. doi.org/10.1136/jnnp.2011.245811.
Jinnah, Hyder A., Jan K. Teller, and Wendy R. Galpern. 2015. “Recent Developments in Dystonia.” Current Opinion in Neurology 28 (4): 400. doi.org/10.1097/WCO.0000000000000213.
Khosravani, Sanaz, Gang Chen, Laurie J. Ozelius, and Kristina Simonyan. 2021. “Neural Endophenotypes and Predictors of Laryngeal Dystonia Penetrance and Manifestation.” Neurobiology of Disease 148 (January):105223. doi.org/10.1016/j.nbd.2020.105223.
Lange, Lara M., Johanna Junker, Sebastian Loens, Hauke Baumann, Luisa Olschewski, Susen Schaake, Harutyun Madoev, et al. 2021. “Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.” Movement Disorders: Official Journal of the Movement Disorder Society 36 (5): 1086–1103. doi.org/10.1002/mds.28485.
Loens, Sebastian, Feline Hamami, Katja Lohmann, Thorsten Odorfer, Chi Wang Ip, Simone Zittel, Kirsten E. Zeuner, et al. 2023. “Tremor Is Associated with Familial Clustering of Dystonia.” Parkinsonism & Related Disorders 110 (May):105400. doi.org/10.1016/j.parkreldis.2023.105400.
Mantel, Tobias, Tobias Meindl, Yong Li, Angela Jochim, Gina Gora-Stahlberg, Jona Kräenbring, Maria Berndt, Christian Dresel, and Bernhard Haslinger. 2018. “Network-Specific Resting-State Connectivity Changes in the Premotor-Parietal Axis in Writer’s Cramp.” NeuroImage. Clinical 17:137–44. doi.org/10.1016/j.nicl.2017.10.001.
Rozanski, Verena Eveline, Eva Rehfuess, Kai Bötzel, and Dennis Nowak. 2015. “Task-Specific Dystonia in Professional Musicians.” Deutsches Ärzteblatt International 112 (51–52): 871–77. doi.org/10.3238/arztebl.2015.0871.
Schmidt, A., H.-C. Jabusch, E. Altenmüller, J. Hagenah, N. Brüggemann, K. Lohmann, L. Enders, et al. 2009. “Etiology of Musician’s Dystonia: Familial or Environmental?” Neurology 72 (14): 1248–54. doi.org/10.1212/01.wnl.0000345670.63363.d1.

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